rs749822

Homo sapiens
A>G
ARHGEF10 : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0059 (7174/121314,ExAC)
G=0051 (1541/29856,GnomAD)
G=0059 (1743/29118,TOPMED)
A==0058 (762/13006,GO-ESP)
G=0057 (286/5008,1000G)
G=0078 (300/3854,ALSPAC)
G=0081 (300/3708,TWINSUK)
chr8:1860090 (GRCh38.p7) (8p23.3)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.1860090A>G
GRCh37.p13 chr 8NC_000008.10:g.1808256A>G
ARHGEF10 RefSeqGene LRG_234
GRCh38.p7 chr 8 alt locus HSCHR8_8_CTG1NT_187576.1:g.43466A>G

Gene: ARHGEF10, Rho guanine nucleotide exchange factor 10(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ARHGEF10 transcript variant 3NM_001308153.1:c....NM_001308153.1:c.459A>GV [GTA]> V [GTG]Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform 3NP_001295082.1:p....NP_001295082.1:p.Val153=V [Val]> V [Val]Synonymous Variant
ARHGEF10 transcript variant 2NM_001308152.1:c....NM_001308152.1:c.387A>GV [GTA]> V [GTG]Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform 2NP_001295081.1:p....NP_001295081.1:p.Val129=V [Val]> V [Val]Synonymous Variant
ARHGEF10 transcript variant 1NM_014629.3:c.387A>GV [GTA]> V [GTG]Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform 1NP_055444.2:p.Val...NP_055444.2:p.Val129=V [Val]> V [Val]Synonymous Variant
ARHGEF10 transcript variant X6XM_011534768.1:c....XM_011534768.1:c.387A>GV [GTA]> V [GTG]Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X5XP_011533070.1:p....XP_011533070.1:p.Val129=V [Val]> V [Val]Synonymous Variant
ARHGEF10 transcript variant X3XM_017014003.1:c....XM_017014003.1:c.459A>GV [GTA]> V [GTG]Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X3XP_016869492.1:p....XP_016869492.1:p.Val153=V [Val]> V [Val]Synonymous Variant
ARHGEF10 transcript variant X2XM_005266041.3:c....XM_005266041.3:c.387A>GV [GTA]> V [GTG]Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X1XP_005266098.1:p....XP_005266098.1:p.Val129=V [Val]> V [Val]Synonymous Variant
ARHGEF10 transcript variant X5XM_011534767.2:c....XM_011534767.2:c.387A>GV [GTA]> V [GTG]Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X4XP_011533069.1:p....XP_011533069.1:p.Val129=V [Val]> V [Val]Synonymous Variant
ARHGEF10 transcript variant X7XM_011534770.2:c....XM_011534770.2:c.387A>GV [GTA]> V [GTG]Coding Sequence Variant
rho guanine nucleotide exchange factor 10 isoform X6XP_011533072.1:p....XP_011533072.1:p.Val129=V [Val]> V [Val]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.976G=0.024
1000GenomesAmericanSub694A=0.930G=0.070
1000GenomesEast AsianSub1008A=0.900G=0.100
1000GenomesEuropeSub1006A=0.926G=0.074
1000GenomesGlobalStudy-wide5008A=0.943G=0.057
1000GenomesSouth AsianSub978A=0.970G=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.922G=0.078
The Exome Aggregation ConsortiumAmericanSub21974A=0.955G=0.044
The Exome Aggregation ConsortiumAsianSub25142A=0.940G=0.059
The Exome Aggregation ConsortiumEuropeSub73292A=0.936G=0.063
The Exome Aggregation ConsortiumGlobalStudy-wide121314A=0.940G=0.059
The Exome Aggregation ConsortiumOtherSub906A=0.960G=0.040
The Genome Aggregation DatabaseAfricanSub8694A=0.975G=0.025
The Genome Aggregation DatabaseAmericanSub838A=0.940G=0.060
The Genome Aggregation DatabaseEast AsianSub1616A=0.903G=0.097
The Genome Aggregation DatabaseEuropeSub18406A=0.940G=0.059
The Genome Aggregation DatabaseGlobalStudy-wide29856A=0.948G=0.051
The Genome Aggregation DatabaseOtherSub302A=0.940G=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.940G=0.059
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.919G=0.081
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs7498220.000449nicotine smoking19268276

eQTL of rs749822 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs749822 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr817611531761322E067-46934
chr817619791763086E067-45170
chr817631661763489E067-44767
chr817637771763876E067-44380
chr817641901764317E067-43939
chr817798741780434E067-27822
chr817811601781214E067-27042
chr817816521781702E067-26554
chr817818931782027E067-26229
chr817820601782110E067-26146
chr817821131782223E067-26033
chr817835831783760E067-24496
chr817838281783948E067-24308
chr817839631784003E067-24253
chr817844961784790E067-23466
chr817853981785473E067-22783
chr817857151786039E067-22217
chr817862031786291E067-21965
chr817863471786922E067-21334
chr817888721789343E067-18913
chr817894701789555E067-18701
chr817895631789640E067-18616
chr817896421789738E067-18518
chr817904001791448E067-16808
chr817914581791543E067-16713
chr817917241791784E067-16472
chr817918441791979E067-16277
chr817946151794665E067-13591
chr817951221795182E067-13074
chr817952411795626E067-12630
chr817956901795937E067-12319
chr818014921801638E067-6618
chr818017561801796E067-6460
chr818019411802100E067-6156
chr818067281807549E067-707
chr818075721807817E067-439
chr818079731808068E067-188
chr818080691808119E067-137
chr818092181809276E067962
chr818093191809520E0671063
chr818112501811838E0672994
chr818118461811888E0673590
chr818119051812167E0673649
chr818122691812327E0674013
chr818281451828209E06719889
chr818282211828337E06719965
chr818283591828837E06720103
chr818288441828919E06720588
chr818289261829259E06720670
chr818292761829326E06721020
chr818296881829765E06721432
chr818299461830007E06721690
chr818445581844612E06736302
chr818448741846124E06736618
chr818461771846263E06737921
chr818472861847410E06739030
chr818474271847474E06739171
chr818475451847653E06739289
chr818478141847864E06739558
chr818478981848252E06739642
chr818494031849453E06741147
chr818497531849868E06741497
chr818498921850025E06741636
chr818500881850238E06741832
chr818503881850466E06742132
chr818505621850610E06742306
chr818509251851010E06742669
chr817611531761322E068-46934
chr817614241761556E068-46700
chr817615601761654E068-46602
chr817617961761849E068-46407
chr817619791763086E068-45170
chr817631661763489E068-44767
chr817637771763876E068-44380
chr817641901764317E068-43939
chr817703521770691E068-37565
chr817707251770837E068-37419
chr817708901770957E068-37299
chr817710151771059E068-37197
chr817811601781214E068-27042
chr817835831783760E068-24496
chr817853981785473E068-22783
chr817857151786039E068-22217
chr817862031786291E068-21965
chr817863471786922E068-21334
chr817875051787559E068-20697
chr817888721789343E068-18913
chr817894701789555E068-18701
chr817895631789640E068-18616
chr817896421789738E068-18518
chr817897621789894E068-18362
chr817898991789986E068-18270
chr817904001791448E068-16808
chr817914581791543E068-16713
chr817917241791784E068-16472
chr817918441791979E068-16277
chr817940081794413E068-13843
chr817946151794665E068-13591
chr817951221795182E068-13074
chr817952411795626E068-12630
chr818019411802100E068-6156
chr818050631805113E068-3143
chr818051161805217E068-3039
chr818112501811838E0682994
chr818118461811888E0683590
chr818119051812167E0683649
chr818396291839683E06831373
chr818397701839821E06831514
chr818399031839986E06831647
chr818402361841154E06831980
chr818426581842708E06834402
chr818440721844130E06835816
chr818441551844266E06835899
chr818445581844612E06836302
chr818448741846124E06836618
chr818461771846263E06837921
chr818464731846523E06838217
chr818465431846600E06838287
chr818467751846828E06838519
chr818470551847185E06838799
chr818472861847410E06839030
chr818474271847474E06839171
chr818475451847653E06839289
chr818478141847864E06839558
chr818478981848252E06839642
chr818494031849453E06841147
chr818509251851010E06842669
chr818510631851456E06842807
chr818514741851547E06843218
chr818556631855725E06847407
chr817611531761322E069-46934
chr817614241761556E069-46700
chr817615601761654E069-46602
chr817631661763489E069-44767
chr817637771763876E069-44380
chr817641901764317E069-43939
chr817707251770837E069-37419
chr817708901770957E069-37299
chr817710151771059E069-37197
chr817736841775235E069-33021
chr817753091775359E069-32897
chr817757961775882E069-32374
chr817811601781214E069-27042
chr817816521781702E069-26554
chr817818931782027E069-26229
chr817820601782110E069-26146
chr817821131782223E069-26033
chr817826101782660E069-25596
chr817827841782885E069-25371
chr817831261783250E069-25006
chr817833801783436E069-24820
chr817835831783760E069-24496
chr817838281783948E069-24308
chr817839631784003E069-24253
chr817844961784790E069-23466
chr817853981785473E069-22783
chr817857151786039E069-22217
chr817862031786291E069-21965
chr817863471786922E069-21334
chr817875051787559E069-20697
chr817888721789343E069-18913
chr817894701789555E069-18701
chr817895631789640E069-18616
chr817896421789738E069-18518
chr817904001791448E069-16808
chr817914581791543E069-16713
chr817917241791784E069-16472
chr817918441791979E069-16277
chr817940081794413E069-13843
chr817951221795182E069-13074
chr817952411795626E069-12630
chr817956901795937E069-12319
chr817959411796061E069-12195
chr817960891796201E069-12055
chr817962461796324E069-11932
chr817963781796564E069-11692
chr817965871796641E069-11615
chr818014921801638E069-6618
chr818017561801796E069-6460
chr818019411802100E069-6156
chr818063121806426E069-1830
chr818067281807549E069-707
chr818075721807817E069-439
chr818079731808068E069-188
chr818080691808119E069-137
chr818082061808670E0690
chr818235101823560E06915254
chr818236901823796E06915434
chr818281451828209E06919889
chr818283591828837E06920103
chr818288441828919E06920588
chr818289261829259E06920670
chr818292761829326E06921020
chr818296881829765E06921432
chr818299461830007E06921690
chr818393751839425E06931119
chr818396291839683E06931373
chr818397701839821E06931514
chr818399031839986E06931647
chr818402361841154E06931980
chr818438891843963E06935633
chr818440721844130E06935816
chr818441551844266E06935899
chr818445581844612E06936302
chr818448741846124E06936618
chr818461771846263E06937921
chr818470551847185E06938799
chr818472861847410E06939030
chr818474271847474E06939171
chr818475451847653E06939289
chr818478141847864E06939558
chr818492691849319E06941013
chr818494031849453E06941147
chr818497531849868E06941497
chr818498921850025E06941636
chr818509251851010E06942669
chr818510631851456E06942807
chr818514741851547E06943218
chr817736841775235E070-33021
chr817904001791448E070-16808
chr817952411795626E070-12630
chr817956901795937E070-12319
chr817959411796061E070-12195
chr817960891796201E070-12055
chr817962461796324E070-11932
chr817963781796564E070-11692
chr817965871796641E070-11615
chr818281451828209E07019889
chr818282211828337E07019965
chr818283591828837E07020103
chr818288441828919E07020588
chr818289261829259E07020670
chr818292761829326E07021020
chr818296881829765E07021432
chr818299461830007E07021690
chr818448741846124E07036618
chr818461771846263E07037921
chr818470551847185E07038799
chr818472861847410E07039030
chr818474271847474E07039171
chr818475451847653E07039289
chr818478141847864E07039558
chr818478981848252E07039642
chr817631661763489E071-44767
chr817637771763876E071-44380
chr817710151771059E071-37197
chr817753091775359E071-32897
chr817757961775882E071-32374
chr817759931776442E071-31814
chr817816521781702E071-26554
chr817818931782027E071-26229
chr817820601782110E071-26146
chr817821131782223E071-26033
chr817826101782660E071-25596
chr817827841782885E071-25371
chr817831261783250E071-25006
chr817833801783436E071-24820
chr817838281783948E071-24308
chr817839631784003E071-24253
chr817844961784790E071-23466
chr817853981785473E071-22783
chr817857151786039E071-22217
chr817862031786291E071-21965
chr817863471786922E071-21334
chr817875051787559E071-20697
chr817888721789343E071-18913
chr817894701789555E071-18701
chr817895631789640E071-18616
chr817896421789738E071-18518
chr817897621789894E071-18362
chr817898991789986E071-18270
chr817904001791448E071-16808
chr817918441791979E071-16277
chr817935911793677E071-14579
chr817940081794413E071-13843
chr817946151794665E071-13591
chr817951221795182E071-13074
chr817952411795626E071-12630
chr817956901795937E071-12319
chr817959411796061E071-12195
chr818014921801638E071-6618
chr818017561801796E071-6460
chr818019411802100E071-6156
chr818038511803901E071-4355
chr818067281807549E071-707
chr818075721807817E071-439
chr818079731808068E071-188
chr818112501811838E0712994
chr818118461811888E0713590
chr818119051812167E0713649
chr818235101823560E07115254
chr818236901823796E07115434
chr818238481823892E07115592
chr818281451828209E07119889
chr818296881829765E07121432
chr818299461830007E07121690
chr818393751839425E07131119
chr818396291839683E07131373
chr818397701839821E07131514
chr818399031839986E07131647
chr818402361841154E07131980
chr818440721844130E07135816
chr818441551844266E07135899
chr818445581844612E07136302
chr818448741846124E07136618
chr818461771846263E07137921
chr818464731846523E07138217
chr818465431846600E07138287
chr818467751846828E07138519
chr818470551847185E07138799
chr818472861847410E07139030
chr818474271847474E07139171
chr818475451847653E07139289
chr818478141847864E07139558
chr818478981848252E07139642
chr818509251851010E07142669
chr817611531761322E072-46934
chr817637771763876E072-44380
chr817641901764317E072-43939
chr817710151771059E072-37197
chr817736841775235E072-33021
chr817753091775359E072-32897
chr817771271778712E072-29544
chr817790021779064E072-29192
chr817791921779252E072-29004
chr817793751779507E072-28749
chr817798741780434E072-27822
chr817804371780537E072-27719
chr817816521781702E072-26554
chr817818931782027E072-26229
chr817820601782110E072-26146
chr817821131782223E072-26033
chr817835831783760E072-24496
chr817838281783948E072-24308
chr817839631784003E072-24253
chr817853981785473E072-22783
chr817857151786039E072-22217
chr817862031786291E072-21965
chr817863471786922E072-21334
chr817875051787559E072-20697
chr817888721789343E072-18913
chr817894701789555E072-18701
chr817895631789640E072-18616
chr817896421789738E072-18518
chr817897621789894E072-18362
chr817898991789986E072-18270
chr817904001791448E072-16808
chr817914581791543E072-16713
chr817917241791784E072-16472
chr817918441791979E072-16277
chr817935911793677E072-14579
chr817940081794413E072-13843
chr817946151794665E072-13591
chr817951221795182E072-13074
chr817952411795626E072-12630
chr817956901795937E072-12319
chr817959411796061E072-12195
chr817963781796564E072-11692
chr817965871796641E072-11615
chr818010081801061E072-7195
chr818014921801638E072-6618
chr818017561801796E072-6460
chr818019411802100E072-6156
chr818063121806426E072-1830
chr818067281807549E072-707
chr818075721807817E072-439
chr818079731808068E072-188
chr818080691808119E072-137
chr818082061808670E0720
chr818088451808916E072589
chr818092181809276E072962
chr818093191809520E0721063
chr818235101823560E07215254
chr818236901823796E07215434
chr818281451828209E07219889
chr818282211828337E07219965
chr818283591828837E07220103
chr818296881829765E07221432
chr818299461830007E07221690
chr818304981830555E07222242
chr818396291839683E07231373
chr818397701839821E07231514
chr818399031839986E07231647
chr818402361841154E07231980
chr818438891843963E07235633
chr818440721844130E07235816
chr818441551844266E07235899
chr818445581844612E07236302
chr818448741846124E07236618
chr818461771846263E07237921
chr818470551847185E07238799
chr818472861847410E07239030
chr818474271847474E07239171
chr818475451847653E07239289
chr818478141847864E07239558
chr818490971849161E07240841
chr818492691849319E07241013
chr818494031849453E07241147
chr818497531849868E07241497
chr818498921850025E07241636
chr818509251851010E07242669
chr818510631851456E07242807
chr817611531761322E073-46934
chr817614241761556E073-46700
chr817615601761654E073-46602
chr817616591761749E073-46507
chr817617961761849E073-46407
chr817619791763086E073-45170
chr817631661763489E073-44767
chr817771271778712E073-29544
chr817816521781702E073-26554
chr817818931782027E073-26229
chr817820601782110E073-26146
chr817821131782223E073-26033
chr817835831783760E073-24496
chr817838281783948E073-24308
chr817862031786291E073-21965
chr817863471786922E073-21334
chr817896421789738E073-18518
chr817897621789894E073-18362
chr817904001791448E073-16808
chr817914581791543E073-16713
chr817917241791784E073-16472
chr817918441791979E073-16277
chr817951221795182E073-13074
chr817952411795626E073-12630
chr817956901795937E073-12319
chr817959411796061E073-12195
chr817960891796201E073-12055
chr817962461796324E073-11932
chr817963781796564E073-11692
chr817965871796641E073-11615
chr817976731797733E073-10523
chr818014921801638E073-6618
chr818017561801796E073-6460
chr818019411802100E073-6156
chr818067281807549E073-707
chr818075721807817E073-439
chr818092181809276E073962
chr818093191809520E0731063
chr818097341809793E0731478
chr818102671810317E0732011
chr818103771810730E0732121
chr818296881829765E07321432
chr818299461830007E07321690
chr818402361841154E07331980
chr818448741846124E07336618
chr818490971849161E07340841
chr818492691849319E07341013
chr818494031849453E07341147
chr818497531849868E07341497
chr818498921850025E07341636
chr818500881850238E07341832
chr818503881850466E07342132
chr818505621850610E07342306
chr818509251851010E07342669
chr817637771763876E074-44380
chr817710151771059E074-37197
chr817753091775359E074-32897
chr817787691778843E074-29413
chr817790021779064E074-29192
chr817791921779252E074-29004
chr817793751779507E074-28749
chr817798741780434E074-27822
chr817804371780537E074-27719
chr817816521781702E074-26554
chr817818931782027E074-26229
chr817820601782110E074-26146
chr817821131782223E074-26033
chr817835831783760E074-24496
chr817838281783948E074-24308
chr817839631784003E074-24253
chr817844961784790E074-23466
chr817853981785473E074-22783
chr817857151786039E074-22217
chr817862031786291E074-21965
chr817863471786922E074-21334
chr817875051787559E074-20697
chr817888721789343E074-18913
chr817894701789555E074-18701
chr817895631789640E074-18616
chr817896421789738E074-18518
chr817897621789894E074-18362
chr817898991789986E074-18270
chr817904001791448E074-16808
chr817917241791784E074-16472
chr817918441791979E074-16277
chr817923461792423E074-15833
chr817935911793677E074-14579
chr817940081794413E074-13843
chr817946151794665E074-13591
chr817951221795182E074-13074
chr817952411795626E074-12630
chr817956901795937E074-12319
chr817959411796061E074-12195
chr817960891796201E074-12055
chr817963781796564E074-11692
chr817965871796641E074-11615
chr818014921801638E074-6618
chr818017561801796E074-6460
chr818019411802100E074-6156
chr818067281807549E074-707
chr818075721807817E074-439
chr818079731808068E074-188
chr818112501811838E0742994
chr818118461811888E0743590
chr818119051812167E0743649
chr818122691812327E0744013
chr818235101823560E07415254
chr818236901823796E07415434
chr818281451828209E07419889
chr818282211828337E07419965
chr818283591828837E07420103
chr818288441828919E07420588
chr818289261829259E07420670
chr818292761829326E07421020
chr818296881829765E07421432
chr818299461830007E07421690
chr818393751839425E07431119
chr818396291839683E07431373
chr818397701839821E07431514
chr818399031839986E07431647
chr818402361841154E07431980
chr818426581842708E07434402
chr818440721844130E07435816
chr818441551844266E07435899
chr818445581844612E07436302
chr818448741846124E07436618
chr818461771846263E07437921
chr818464731846523E07438217
chr818465431846600E07438287
chr818467751846828E07438519
chr818470551847185E07438799
chr818472861847410E07439030
chr818474271847474E07439171
chr818475451847653E07439289
chr818509251851010E07442669
chr818510631851456E07442807
chr818514741851547E07443218
chr817736841775235E081-33021
chr817753091775359E081-32897
chr817952411795626E081-12630
chr817956901795937E081-12319
chr817959411796061E081-12195
chr817960891796201E081-12055
chr817962461796324E081-11932
chr817963781796564E081-11692
chr817965871796641E081-11615
chr818063121806426E081-1830
chr818067281807549E081-707
chr818075721807817E081-439
chr818079731808068E081-188
chr818080691808119E081-137
chr818082061808670E0810
chr818088451808916E081589
chr818092181809276E081962
chr818093191809520E0811063
chr818112501811838E0812994
chr818118461811888E0813590
chr818119051812167E0813649
chr818402361841154E08131980
chr818448741846124E08136618
chr818461771846263E08137921
chr818464731846523E08138217
chr818465431846600E08138287
chr818467751846828E08138519
chr818470551847185E08138799
chr818472861847410E08139030
chr818474271847474E08139171
chr818475451847653E08139289
chr818478141847864E08139558
chr818478981848252E08139642
chr818483411848381E08140085
chr818484201848474E08140164
chr818485171848780E08140261
chr818489261848988E08140670
chr818503881850466E08142132
chr817952411795626E082-12630
chr817956901795937E082-12319
chr817959411796061E082-12195
chr817960891796201E082-12055
chr817962461796324E082-11932
chr817963781796564E082-11692
chr818067281807549E082-707
chr818075721807817E082-439
chr818079731808068E082-188
chr818080691808119E082-137
chr818478981848252E08239642
chr818483411848381E08240085
chr818494031849453E08241147
chr818497531849868E08241497










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr817710931772751E067-35505
chr817710931772751E068-35505
chr817710931772751E069-35505
chr817710931772751E070-35505
chr817729461773229E070-35027
chr817710931772751E071-35505
chr817710931772751E072-35505
chr817710931772751E073-35505
chr817710931772751E074-35505
chr817710931772751E082-35505