rs17530358

Homo sapiens
G>A
SRGAP3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0206 (6166/29924,GnomAD)
A=0174 (5083/29118,TOPMED)
A=0171 (857/5008,1000G)
A=0276 (1065/3854,ALSPAC)
A=0272 (1007/3708,TWINSUK)
chr3:9158691 (GRCh38.p7) (3p25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.9158691G>A
GRCh37.p13 chr 3NC_000003.11:g.9200375G>A

Gene: SRGAP3, SLIT-ROBO Rho GTPase activating protein 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SRGAP3 transcript variant 2NM_001033117.2:c.N/AIntron Variant
SRGAP3 transcript variant 1NM_014850.3:c.N/AIntron Variant
SRGAP3 transcript variant X2XM_011534295.1:c.N/AIntron Variant
SRGAP3 transcript variant X4XM_011534296.1:c.N/AIntron Variant
SRGAP3 transcript variant X1XM_017007574.1:c.N/AIntron Variant
SRGAP3 transcript variant X3XM_017007575.1:c.N/AIntron Variant
SRGAP3 transcript variant X5XM_017007576.1:c.N/AIntron Variant
SRGAP3 transcript variant X6XM_017007577.1:c.N/AIntron Variant
SRGAP3 transcript variant X7XM_017007578.1:c.N/AIntron Variant
SRGAP3 transcript variant X10XM_017007579.1:c.N/AIntron Variant
SRGAP3 transcript variant X10XM_017007580.1:c.N/AIntron Variant
SRGAP3 transcript variant X8XM_011534301.2:c.N/AGenic Upstream Transcript Variant
SRGAP3 transcript variant X12XM_011534303.1:c.N/AGenic Upstream Transcript Variant
SRGAP3 transcript variant X13XR_001740391.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.985A=0.015
1000GenomesAmericanSub694G=0.640A=0.360
1000GenomesEast AsianSub1008G=0.913A=0.087
1000GenomesEuropeSub1006G=0.737A=0.263
1000GenomesGlobalStudy-wide5008G=0.829A=0.171
1000GenomesSouth AsianSub978G=0.760A=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.724A=0.276
The Genome Aggregation DatabaseAfricanSub8716G=0.944A=0.056
The Genome Aggregation DatabaseAmericanSub838G=0.630A=0.370
The Genome Aggregation DatabaseEast AsianSub1622G=0.930A=0.070
The Genome Aggregation DatabaseEuropeSub18446G=0.718A=0.281
The Genome Aggregation DatabaseGlobalStudy-wide29924G=0.793A=0.206
The Genome Aggregation DatabaseOtherSub302G=0.800A=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.825A=0.174
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.728A=0.272
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs175303580.00038alcohol dependence24277619

eQTL of rs17530358 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 rs17530358 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 )
chr391505579150915E067-49460
chr391510369151215E067-49160
chr391513179151502E067-48873
chr391526829152804E067-47571
chr391529919154001E067-46374
chr391543639154452E067-45923
chr391546669154986E067-45389
chr391582629158320E067-42055
chr391588139159400E067-40975
chr391631579163551E067-36824
chr391719569172012E067-28363
chr391721949172437E067-27938
chr391724689172708E067-27667
chr391788549179120E067-21255
chr391827529184486E067-15889
chr391845649184614E067-15761
chr391849559185160E067-15215
chr391912799191555E067-8820
chr391921419192227E067-8148
chr391955449196418E067-3957
chr392071819207311E0676806
chr392097049209756E0679329
chr392098699210420E0679494
chr392104419210549E06710066
chr392108289211529E06710453
chr392116599211974E06711284
chr392151169215191E06714741
chr392162329216282E06715857
chr392163539216546E06715978
chr392165879216709E06716212
chr392169949217469E06716619
chr392213079221373E06720932
chr392214429221531E06721067
chr392215329221896E06721157
chr392247699225017E06724394
chr392252299225310E06724854
chr392253499225496E06724974
chr392255509226109E06725175
chr392268609226934E06726485
chr392271399227196E06726764
chr392273089227358E06726933
chr392275379227696E06727162
chr392321049232154E06731729
chr392403929240467E06740017
chr392405309240976E06740155
chr392413259241592E06740950
chr392416759241794E06741300
chr392425279242636E06742152
chr392426569242804E06742281
chr392430229243242E06742647
chr392432679243550E06742892
chr392437239244063E06743348
chr392448489244898E06744473
chr392457499245811E06745374
chr392459599246695E06745584
chr391505579150915E068-49460
chr391510369151215E068-49160
chr391513179151502E068-48873
chr391631579163551E068-36824
chr391719569172012E068-28363
chr391721949172437E068-27938
chr391724689172708E068-27667
chr391827529184486E068-15889
chr391845649184614E068-15761
chr391849559185160E068-15215
chr391955449196418E068-3957
chr392097049209756E0689329
chr392098699210420E0689494
chr392104419210549E06810066
chr392108289211529E06810453
chr392143019214351E06813926
chr392145549215065E06814179
chr392151169215191E06814741
chr392162329216282E06815857
chr392163539216546E06815978
chr392165879216709E06816212
chr392247699225017E06824394
chr392252299225310E06824854
chr392253499225496E06824974
chr392255509226109E06825175
chr392268609226934E06826485
chr392321049232154E06831729
chr392403929240467E06840017
chr392405309240976E06840155
chr392413259241592E06840950
chr392416759241794E06841300
chr392425279242636E06842152
chr392426569242804E06842281
chr392430229243242E06842647
chr392432679243550E06842892
chr392437239244063E06843348
chr392448489244898E06844473
chr392457499245811E06845374
chr392459599246695E06845584
chr391505579150915E069-49460
chr391510369151215E069-49160
chr391513179151502E069-48873
chr391526829152804E069-47571
chr391529919154001E069-46374
chr391543639154452E069-45923
chr391546669154986E069-45389
chr391631579163551E069-36824
chr391656169165808E069-34567
chr391662269166301E069-34074
chr391664849166578E069-33797
chr391666469166732E069-33643
chr391721949172437E069-27938
chr391724689172708E069-27667
chr391845649184614E069-15761
chr391849559185160E069-15215
chr391892709189469E069-10906
chr391895079189568E069-10807
chr391896219189843E069-10532
chr391900079190066E069-10309
chr391955449196418E069-3957
chr392097049209756E0699329
chr392098699210420E0699494
chr392104419210549E06910066
chr392108289211529E06910453
chr392143019214351E06913926
chr392151169215191E06914741
chr392162329216282E06915857
chr392163539216546E06915978
chr392165879216709E06916212
chr392169949217469E06916619
chr392205609220610E06920185
chr392206119220691E06920236
chr392207169220766E06920341
chr392213079221373E06920932
chr392214429221531E06921067
chr392215329221896E06921157
chr392228369222906E06922461
chr392229449223017E06922569
chr392252299225310E06924854
chr392253499225496E06924974
chr392255509226109E06925175
chr392268609226934E06926485
chr392271399227196E06926764
chr392273089227358E06926933
chr392275379227696E06927162
chr392278729227912E06927497
chr392282019228280E06927826
chr392283269228426E06927951
chr392321049232154E06931729
chr392403929240467E06940017
chr392405309240976E06940155
chr392413259241592E06940950
chr392416759241794E06941300
chr392425279242636E06942152
chr392426569242804E06942281
chr392430229243242E06942647
chr392432679243550E06942892
chr392437239244063E06943348
chr392448489244898E06944473
chr392457499245811E06945374
chr392459599246695E06945584
chr392475979247658E06947222
chr391631579163551E070-36824
chr391773809177461E070-22914
chr391788549179120E070-21255
chr391792929179818E070-20557
chr392098699210420E0709494
chr392104419210549E07010066
chr392247699225017E07024394
chr392252299225310E07024854
chr392253499225496E07024974
chr392255509226109E07025175
chr392268609226934E07026485
chr392299289229978E07029553
chr392303039230451E07029928
chr392377399238105E07037364
chr392403929240467E07040017
chr392405309240976E07040155
chr392413259241592E07040950
chr392416759241794E07041300
chr392425279242636E07042152
chr392426569242804E07042281
chr392430229243242E07042647
chr392432679243550E07042892
chr392437239244063E07043348
chr392448489244898E07044473
chr392457499245811E07045374
chr392475979247658E07047222
chr391513179151502E071-48873
chr391526829152804E071-47571
chr391529919154001E071-46374
chr391543639154452E071-45923
chr391631579163551E071-36824
chr391662269166301E071-34074
chr391664849166578E071-33797
chr391666469166732E071-33643
chr391670809167174E071-33201
chr391719569172012E071-28363
chr391721949172437E071-27938
chr391724689172708E071-27667
chr391788549179120E071-21255
chr391827529184486E071-15889
chr391845649184614E071-15761
chr391955449196418E071-3957
chr391967689197037E071-3338
chr392029539203028E0712578
chr392030959203245E0712720
chr392034909203807E0713115
chr392089289209057E0718553
chr392097049209756E0719329
chr392098699210420E0719494
chr392104419210549E07110066
chr392108289211529E07110453
chr392143019214351E07113926
chr392151169215191E07114741
chr392162329216282E07115857
chr392163539216546E07115978
chr392165879216709E07116212
chr392169949217469E07116619
chr392205609220610E07120185
chr392206119220691E07120236
chr392207169220766E07120341
chr392213079221373E07120932
chr392214429221531E07121067
chr392215329221896E07121157
chr392228369222906E07122461
chr392229449223017E07122569
chr392252299225310E07124854
chr392253499225496E07124974
chr392255509226109E07125175
chr392268609226934E07126485
chr392271399227196E07126764
chr392273089227358E07126933
chr392275379227696E07127162
chr392278729227912E07127497
chr392282019228280E07127826
chr392283269228426E07127951
chr392321049232154E07131729
chr392403929240467E07140017
chr392413259241592E07140950
chr392416759241794E07141300
chr392425279242636E07142152
chr392426569242804E07142281
chr392430229243242E07142647
chr392432679243550E07142892
chr392437239244063E07143348
chr392448489244898E07144473
chr392457499245811E07145374
chr392459599246695E07145584
chr391510369151215E072-49160
chr391513179151502E072-48873
chr391526829152804E072-47571
chr391529919154001E072-46374
chr391543639154452E072-45923
chr391546669154986E072-45389
chr391631579163551E072-36824
chr391656169165808E072-34567
chr391662269166301E072-34074
chr391664849166578E072-33797
chr391666469166732E072-33643
chr391673019167505E072-32870
chr391719569172012E072-28363
chr391721949172437E072-27938
chr391788549179120E072-21255
chr391792929179818E072-20557
chr391827529184486E072-15889
chr391845649184614E072-15761
chr391849559185160E072-15215
chr391892709189469E072-10906
chr391895079189568E072-10807
chr391896219189843E072-10532
chr391955449196418E072-3957
chr392063019206351E0725926
chr392097049209756E0729329
chr392098699210420E0729494
chr392104419210549E07210066
chr392108289211529E07210453
chr392143019214351E07213926
chr392162329216282E07215857
chr392163539216546E07215978
chr392165879216709E07216212
chr392169949217469E07216619
chr392206119220691E07220236
chr392207169220766E07220341
chr392213079221373E07220932
chr392214429221531E07221067
chr392215329221896E07221157
chr392228369222906E07222461
chr392229449223017E07222569
chr392247699225017E07224394
chr392252299225310E07224854
chr392253499225496E07224974
chr392268609226934E07226485
chr392275379227696E07227162
chr392278729227912E07227497
chr392321049232154E07231729
chr392413259241592E07240950
chr392416759241794E07241300
chr392425279242636E07242152
chr392426569242804E07242281
chr392430229243242E07242647
chr392432679243550E07242892
chr392437239244063E07243348
chr392448489244898E07244473
chr392457499245811E07245374
chr392459599246695E07245584
chr392475979247658E07247222
chr391505579150915E073-49460
chr391510369151215E073-49160
chr391513179151502E073-48873
chr391526829152804E073-47571
chr391529919154001E073-46374
chr391543639154452E073-45923
chr391582629158320E073-42055
chr391586949158802E073-41573
chr391604799160550E073-39825
chr391631579163551E073-36824
chr391656169165808E073-34567
chr391724689172708E073-27667
chr391773809177461E073-22914
chr391788549179120E073-21255
chr391792929179818E073-20557
chr391845649184614E073-15761
chr391849559185160E073-15215
chr391891169189215E073-11160
chr391892709189469E073-10906
chr391895079189568E073-10807
chr391896219189843E073-10532
chr391955449196418E073-3957
chr391967689197037E073-3338
chr392071819207311E0736806
chr392098699210420E0739494
chr392104419210549E07310066
chr392108289211529E07310453
chr392143019214351E07313926
chr392151169215191E07314741
chr392162329216282E07315857
chr392163539216546E07315978
chr392165879216709E07316212
chr392169949217469E07316619
chr392214429221531E07321067
chr392215329221896E07321157
chr392247699225017E07324394
chr392252299225310E07324854
chr392253499225496E07324974
chr392255509226109E07325175
chr392268609226934E07326485
chr392271399227196E07326764
chr392273089227358E07326933
chr392275379227696E07327162
chr392278729227912E07327497
chr392299289229978E07329553
chr392403929240467E07340017
chr392413259241592E07340950
chr392416759241794E07341300
chr392425279242636E07342152
chr392426569242804E07342281
chr392430229243242E07342647
chr392432679243550E07342892
chr392437239244063E07343348
chr392448489244898E07344473
chr392457499245811E07345374
chr392459599246695E07345584
chr391526829152804E074-47571
chr391631579163551E074-36824
chr391719569172012E074-28363
chr391721949172437E074-27938
chr391724689172708E074-27667
chr391955449196418E074-3957
chr391998649199904E074-471
chr392004909200669E074115
chr392097049209756E0749329
chr392098699210420E0749494
chr392104419210549E07410066
chr392108289211529E07410453
chr392143019214351E07413926
chr392151169215191E07414741
chr392162329216282E07415857
chr392163539216546E07415978
chr392165879216709E07416212
chr392169949217469E07416619
chr392205609220610E07420185
chr392206119220691E07420236
chr392207169220766E07420341
chr392213079221373E07420932
chr392215329221896E07421157
chr392247699225017E07424394
chr392252299225310E07424854
chr392253499225496E07424974
chr392255509226109E07425175
chr392268609226934E07426485
chr392271399227196E07426764
chr392273089227358E07426933
chr392275379227696E07427162
chr392278729227912E07427497
chr392282019228280E07427826
chr392283269228426E07427951
chr392413259241592E07440950
chr392416759241794E07441300
chr392425279242636E07442152
chr392426569242804E07442281
chr392430229243242E07442647
chr392432679243550E07442892
chr392437239244063E07443348
chr392448489244898E07444473
chr392457499245811E07445374
chr392459599246695E07445584
chr392475979247658E07447222
chr391505579150915E081-49460
chr391510369151215E081-49160
chr391513179151502E081-48873
chr391526829152804E081-47571
chr391529919154001E081-46374
chr391543639154452E081-45923
chr391546669154986E081-45389
chr391571399157322E081-43053
chr391582629158320E081-42055
chr391586949158802E081-41573
chr391588139159400E081-40975
chr391599879160275E081-40100
chr391604799160550E081-39825
chr391607519160846E081-39529
chr391608559161455E081-38920
chr391621079162157E081-38218
chr391621859162318E081-38057
chr391631579163551E081-36824
chr391645119164689E081-35686
chr391647299164781E081-35594
chr391648089164908E081-35467
chr391649209164984E081-35391
chr391656169165808E081-34567
chr391662269166301E081-34074
chr391664849166578E081-33797
chr391666469166732E081-33643
chr391670809167174E081-33201
chr391673019167505E081-32870
chr391719569172012E081-28363
chr391721949172437E081-27938
chr391724689172708E081-27667
chr391773809177461E081-22914
chr391788549179120E081-21255
chr391792929179818E081-20557
chr391845649184614E081-15761
chr391849559185160E081-15215
chr391955449196418E081-3957
chr392071819207311E0816806
chr392098699210420E0819494
chr392104419210549E08110066
chr392108289211529E08110453
chr392252299225310E08124854
chr392253499225496E08124974
chr392255509226109E08125175
chr392268609226934E08126485
chr392271399227196E08126764
chr392273089227358E08126933
chr392275379227696E08127162
chr392278729227912E08127497
chr392282019228280E08127826
chr392283269228426E08127951
chr392370859237306E08136710
chr392377399238105E08137364
chr392403929240467E08140017
chr392405309240976E08140155
chr392413259241592E08140950
chr392416759241794E08141300
chr392425279242636E08142152
chr392426569242804E08142281
chr392448489244898E08144473
chr392457499245811E08145374
chr392459599246695E08145584
chr391526829152804E082-47571
chr391529919154001E082-46374
chr391582629158320E082-42055
chr391586949158802E082-41573
chr391588139159400E082-40975
chr391599879160275E082-40100
chr391604799160550E082-39825
chr391607519160846E082-39529
chr391631579163551E082-36824
chr391656169165808E082-34567
chr391662269166301E082-34074
chr391664849166578E082-33797
chr391666469166732E082-33643
chr391670809167174E082-33201
chr391673019167505E082-32870
chr391724689172708E082-27667
chr391788549179120E082-21255
chr391792929179818E082-20557
chr391845649184614E082-15761
chr391849559185160E082-15215
chr392098699210420E0829494
chr392104419210549E08210066
chr392108289211529E08210453
chr392275379227696E08227162
chr392278729227912E08227497
chr392299289229978E08229553
chr392303039230451E08229928
chr392312399231467E08230864
chr392321049232154E08231729
chr392353699235587E08234994
chr392356039235767E08235228
chr392403929240467E08240017
chr392413259241592E08240950
chr392416759241794E08241300
chr392425279242636E08242152
chr392426569242804E08242281
chr392430229243242E08242647
chr392432679243550E08242892
chr392437239244063E08243348
chr392448489244898E08244473
chr392457499245811E08245374










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr391774819178315E067-22060
chr391774819178315E068-22060
chr391774819178315E069-22060
chr391774819178315E070-22060
chr391774819178315E071-22060
chr391774819178315E072-22060
chr391774819178315E073-22060
chr391774819178315E074-22060
chr391774819178315E082-22060