rs17707505

Homo sapiens
C>T
RAPGEF5 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0052 (1563/29976,GnomAD)
T=0038 (1123/29118,TOPMED)
T=0020 (101/5008,1000G)
T=0078 (301/3854,ALSPAC)
T=0078 (291/3708,TWINSUK)
chr7:22118446 (GRCh38.p7) (7p15.3)
AD
GWASdb2
1   publication(s)
See rs on genome
539 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.22118446C>T
GRCh37.p13 chr 7NC_000007.13:g.22158064C>T

Gene: RAPGEF5, Rap guanine nucleotide exchange factor 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RAPGEF5 transcriptNM_012294.3:c.N/A3 Prime UTR Variant
RAPGEF5 transcript variant X3XM_005249916.1:c.N/A3 Prime UTR Variant
RAPGEF5 transcript variant X1XM_005249914.2:c.N/A3 Prime UTR Variant
RAPGEF5 transcript variant X2XM_017012837.1:c.N/A3 Prime UTR Variant
RAPGEF5 transcript variant X4XM_011515652.2:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.998T=0.002
1000GenomesAmericanSub694C=0.970T=0.030
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.934T=0.066
1000GenomesGlobalStudy-wide5008C=0.980T=0.020
1000GenomesSouth AsianSub978C=0.990T=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.922T=0.078
The Genome Aggregation DatabaseAfricanSub8732C=0.985T=0.015
The Genome Aggregation DatabaseAmericanSub838C=0.970T=0.030
The Genome Aggregation DatabaseEast AsianSub1620C=0.999T=0.001
The Genome Aggregation DatabaseEuropeSub18484C=0.924T=0.075
The Genome Aggregation DatabaseGlobalStudy-wide29976C=0.947T=0.052
The Genome Aggregation DatabaseOtherSub302C=0.970T=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.961T=0.038
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.922T=0.078
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs177075050.00031alcohol dependence20201924

eQTL of rs17707505 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 rs17707505 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 )
chr72214324022143645E067-14419
chr72214612322146179E067-11885
chr72214660622146660E067-11404
chr72214693522147016E067-11048
chr72214702822147241E067-10823
chr72214783322147891E067-10173
chr72214799422148352E067-9712
chr72214874522148854E067-9210
chr72214890922148981E067-9083
chr72214915822149345E067-8719
chr72214941622150448E067-7616
chr72215052222150862E067-7202
chr72215095422151004E067-7060
chr72215114322151201E067-6863
chr72215130722151357E067-6707
chr72215142722151529E067-6535
chr72215161522151723E067-6341
chr72215257322152653E067-5411
chr72215268822152728E067-5336
chr72215274522152982E067-5082
chr72216021822160282E0672154
chr72216030822160419E0672244
chr72216043222160482E0672368
chr72216048722160567E0672423
chr72216108822161179E0673024
chr72216141522161491E0673351
chr72216158922161649E0673525
chr72216167522162073E0673611
chr72216255422162618E0674490
chr72216274522163164E0674681
chr72217183022171899E06713766
chr72217266522172715E06714601
chr72217665822176908E06718594
chr72217699222177072E06718928
chr72218110522181417E06723041
chr72218167522181825E06723611
chr72218225222182453E06724188
chr72218315722183295E06725093
chr72218368222183722E06725618
chr72218436722184448E06726303
chr72218465422184708E06726590
chr72218475022184914E06726686
chr72218545422185494E06727390
chr72218566222186010E06727598
chr72218641022186517E06728346
chr72218676122187088E06728697
chr72218762322187750E06729559
chr72218784422187894E06729780
chr72218857822188618E06730514
chr72218863422188706E06730570
chr72219276622192816E06734702
chr72219294322192993E06734879
chr72219309422193553E06735030
chr72219356322193826E06735499
chr72219383922194013E06735775
chr72219428222194338E06736218
chr72219441622194494E06736352
chr72219456322194603E06736499
chr72219547522195529E06737411
chr72219592322196131E06737859
chr72219623422196344E06738170
chr72219659122196643E06738527
chr72219724222197476E06739178
chr72219753222197817E06739468
chr72219794922197989E06739885
chr72220236522202425E06744301
chr72212196022122010E068-36054
chr72212203222122096E068-35968
chr72214660622146660E068-11404
chr72214693522147016E068-11048
chr72214702822147241E068-10823
chr72214890922148981E068-9083
chr72214915822149345E068-8719
chr72214941622150448E068-7616
chr72215052222150862E068-7202
chr72215095422151004E068-7060
chr72215114322151201E068-6863
chr72215130722151357E068-6707
chr72215142722151529E068-6535
chr72215161522151723E068-6341
chr72215257322152653E068-5411
chr72215268822152728E068-5336
chr72215274522152982E068-5082
chr72215419822154388E068-3676
chr72215439822154451E068-3613
chr72215463722154693E068-3371
chr72216021822160282E0682154
chr72216030822160419E0682244
chr72216043222160482E0682368
chr72216048722160567E0682423
chr72216108822161179E0683024
chr72216141522161491E0683351
chr72216158922161649E0683525
chr72216167522162073E0683611
chr72217266522172715E06814601
chr72217304022173167E06814976
chr72217327222173379E06815208
chr72217786022178003E06819796
chr72217815022178220E06820086
chr72217827122179265E06820207
chr72218110522181417E06823041
chr72218167522181825E06823611
chr72218225222182453E06824188
chr72218315722183295E06825093
chr72218368222183722E06825618
chr72218436722184448E06826303
chr72218465422184708E06826590
chr72218475022184914E06826686
chr72218545422185494E06827390
chr72218762322187750E06829559
chr72218784422187894E06829780
chr72218857822188618E06830514
chr72218863422188706E06830570
chr72219264122192693E06834577
chr72219276622192816E06834702
chr72219294322192993E06834879
chr72219309422193553E06835030
chr72219356322193826E06835499
chr72219383922194013E06835775
chr72219428222194338E06836218
chr72219441622194494E06836352
chr72219456322194603E06836499
chr72219547522195529E06837411
chr72219592322196131E06837859
chr72219623422196344E06838170
chr72219659122196643E06838527
chr72219724222197476E06839178
chr72219753222197817E06839468
chr72219794922197989E06839885
chr72211164722111707E069-46357
chr72214282322142882E069-15182
chr72214293522143161E069-14903
chr72214660622146660E069-11404
chr72214693522147016E069-11048
chr72214702822147241E069-10823
chr72214762522147675E069-10389
chr72214783322147891E069-10173
chr72214799422148352E069-9712
chr72214874522148854E069-9210
chr72214890922148981E069-9083
chr72214915822149345E069-8719
chr72214941622150448E069-7616
chr72215052222150862E069-7202
chr72215095422151004E069-7060
chr72215114322151201E069-6863
chr72215130722151357E069-6707
chr72215142722151529E069-6535
chr72215161522151723E069-6341
chr72215257322152653E069-5411
chr72215268822152728E069-5336
chr72215274522152982E069-5082
chr72215419822154388E069-3676
chr72215439822154451E069-3613
chr72215463722154693E069-3371
chr72215916122159228E0691097
chr72216021822160282E0692154
chr72216030822160419E0692244
chr72216720522167255E0699141
chr72216757722167775E0699513
chr72216792622168056E0699862
chr72216825722168318E06910193
chr72216894922169406E06910885
chr72216945222169521E06911388
chr72216953822169588E06911474
chr72216962422169789E06911560
chr72216995122170043E06911887
chr72217266522172715E06914601
chr72217304022173167E06914976
chr72217327222173379E06915208
chr72217459622174656E06916532
chr72217466322174743E06916599
chr72217665822176908E06918594
chr72217699222177072E06918928
chr72217716322177476E06919099
chr72217757522177646E06919511
chr72217786022178003E06919796
chr72217815022178220E06920086
chr72217827122179265E06920207
chr72217939722179565E06921333
chr72217958122180071E06921517
chr72218110522181417E06923041
chr72218167522181825E06923611
chr72218225222182453E06924188
chr72218315722183295E06925093
chr72218368222183722E06925618
chr72218436722184448E06926303
chr72218465422184708E06926590
chr72218475022184914E06926686
chr72218676122187088E06928697
chr72218857822188618E06930514
chr72218863422188706E06930570
chr72219042622190476E06932362
chr72219168922191743E06933625
chr72219243822192548E06934374
chr72219264122192693E06934577
chr72219276622192816E06934702
chr72219294322192993E06934879
chr72219309422193553E06935030
chr72219356322193826E06935499
chr72219383922194013E06935775
chr72219428222194338E06936218
chr72219441622194494E06936352
chr72219456322194603E06936499
chr72219547522195529E06937411
chr72219592322196131E06937859
chr72219623422196344E06938170
chr72219659122196643E06938527
chr72219724222197476E06939178
chr72219753222197817E06939468
chr72219794922197989E06939885
chr72220103722201117E06942973
chr72211164722111707E070-46357
chr72211444322114902E070-43162
chr72211516222115529E070-42535
chr72212142022121583E070-36481
chr72212162822121678E070-36386
chr72212168722121737E070-36327
chr72212178122121861E070-36203
chr72212196022122010E070-36054
chr72212203222122096E070-35968
chr72218722722187305E07029163
chr72219309422193553E07035030
chr72219356322193826E07035499
chr72219428222194338E07036218
chr72212390022123956E071-34108
chr72214293522143161E071-14903
chr72214324022143645E071-14419
chr72214416722144217E071-13847
chr72214451622144566E071-13498
chr72214464122144724E071-13340
chr72214612322146179E071-11885
chr72214660622146660E071-11404
chr72214693522147016E071-11048
chr72214702822147241E071-10823
chr72214874522148854E071-9210
chr72214890922148981E071-9083
chr72214915822149345E071-8719
chr72214941622150448E071-7616
chr72215052222150862E071-7202
chr72215095422151004E071-7060
chr72215114322151201E071-6863
chr72215130722151357E071-6707
chr72215142722151529E071-6535
chr72215161522151723E071-6341
chr72215257322152653E071-5411
chr72215268822152728E071-5336
chr72215274522152982E071-5082
chr72215419822154388E071-3676
chr72215439822154451E071-3613
chr72215463722154693E071-3371
chr72215732322157411E071-653
chr72215758922157639E071-425
chr72215916122159228E0711097
chr72216141522161491E0713351
chr72216158922161649E0713525
chr72216167522162073E0713611
chr72217266522172715E07114601
chr72217304022173167E07114976
chr72217327222173379E07115208
chr72217665822176908E07118594
chr72217699222177072E07118928
chr72217716322177476E07119099
chr72217757522177646E07119511
chr72217786022178003E07119796
chr72217815022178220E07120086
chr72217827122179265E07120207
chr72217939722179565E07121333
chr72217958122180071E07121517
chr72218026822180683E07122204
chr72218074522180826E07122681
chr72218110522181417E07123041
chr72218167522181825E07123611
chr72218225222182453E07124188
chr72218315722183295E07125093
chr72218368222183722E07125618
chr72218436722184448E07126303
chr72218465422184708E07126590
chr72218475022184914E07126686
chr72218545422185494E07127390
chr72218566222186010E07127598
chr72218630022186375E07128236
chr72218641022186517E07128346
chr72218676122187088E07128697
chr72218722722187305E07129163
chr72218762322187750E07129559
chr72218784422187894E07129780
chr72219168922191743E07133625
chr72219243822192548E07134374
chr72219264122192693E07134577
chr72219276622192816E07134702
chr72219294322192993E07134879
chr72219309422193553E07135030
chr72219356322193826E07135499
chr72219383922194013E07135775
chr72219428222194338E07136218
chr72219441622194494E07136352
chr72219456322194603E07136499
chr72219547522195529E07137411
chr72219592322196131E07137859
chr72219623422196344E07138170
chr72219659122196643E07138527
chr72219724222197476E07139178
chr72219753222197817E07139468
chr72219794922197989E07139885
chr72220103722201117E07142973
chr72220787922208041E07149815
chr72211444322114902E072-43162
chr72214612322146179E072-11885
chr72214660622146660E072-11404
chr72214693522147016E072-11048
chr72214702822147241E072-10823
chr72214762522147675E072-10389
chr72214783322147891E072-10173
chr72214799422148352E072-9712
chr72214851922148579E072-9485
chr72214874522148854E072-9210
chr72214890922148981E072-9083
chr72214941622150448E072-7616
chr72215052222150862E072-7202
chr72215095422151004E072-7060
chr72215114322151201E072-6863
chr72215130722151357E072-6707
chr72215142722151529E072-6535
chr72215161522151723E072-6341
chr72215257322152653E072-5411
chr72215268822152728E072-5336
chr72215274522152982E072-5082
chr72215419822154388E072-3676
chr72215439822154451E072-3613
chr72215463722154693E072-3371
chr72215724622157309E072-755
chr72215732322157411E072-653
chr72215758922157639E072-425
chr72215916122159228E0721097
chr72216021822160282E0722154
chr72216030822160419E0722244
chr72216274522163164E0724681
chr72216894922169406E07210885
chr72216945222169521E07211388
chr72216953822169588E07211474
chr72216962422169789E07211560
chr72217154122171585E07213477
chr72217266522172715E07214601
chr72217304022173167E07214976
chr72217665822176908E07218594
chr72217699222177072E07218928
chr72217716322177476E07219099
chr72217757522177646E07219511
chr72217786022178003E07219796
chr72217815022178220E07220086
chr72217827122179265E07220207
chr72217939722179565E07221333
chr72217958122180071E07221517
chr72218026822180683E07222204
chr72218074522180826E07222681
chr72218110522181417E07223041
chr72218167522181825E07223611
chr72218225222182453E07224188
chr72218315722183295E07225093
chr72218368222183722E07225618
chr72218436722184448E07226303
chr72218465422184708E07226590
chr72218475022184914E07226686
chr72218676122187088E07228697
chr72218722722187305E07229163
chr72218762322187750E07229559
chr72219168922191743E07233625
chr72219243822192548E07234374
chr72219264122192693E07234577
chr72219276622192816E07234702
chr72219294322192993E07234879
chr72219309422193553E07235030
chr72219356322193826E07235499
chr72219383922194013E07235775
chr72219428222194338E07236218
chr72219441622194494E07236352
chr72219456322194603E07236499
chr72219547522195529E07237411
chr72219592322196131E07237859
chr72219623422196344E07238170
chr72219659122196643E07238527
chr72219724222197476E07239178
chr72219753222197817E07239468
chr72219794922197989E07239885
chr72220103722201117E07242973
chr72220612122206208E07248057
chr72220630622206356E07248242
chr72220638822206462E07248324
chr72220656622206797E07248502
chr72220709522207145E07249031
chr72212196022122010E073-36054
chr72212203222122096E073-35968
chr72214799422148352E073-9712
chr72214851922148579E073-9485
chr72214874522148854E073-9210
chr72214890922148981E073-9083
chr72214915822149345E073-8719
chr72214941622150448E073-7616
chr72215052222150862E073-7202
chr72215095422151004E073-7060
chr72215114322151201E073-6863
chr72215130722151357E073-6707
chr72215142722151529E073-6535
chr72215161522151723E073-6341
chr72215274522152982E073-5082
chr72215419822154388E073-3676
chr72215439822154451E073-3613
chr72215463722154693E073-3371
chr72216158922161649E0733525
chr72216167522162073E0733611
chr72216255422162618E0734490
chr72216274522163164E0734681
chr72216894922169406E07310885
chr72216945222169521E07311388
chr72216953822169588E07311474
chr72216962422169789E07311560
chr72217183022171899E07313766
chr72217665822176908E07318594
chr72217699222177072E07318928
chr72217716322177476E07319099
chr72217757522177646E07319511
chr72217786022178003E07319796
chr72217815022178220E07320086
chr72217827122179265E07320207
chr72218110522181417E07323041
chr72218315722183295E07325093
chr72218762322187750E07329559
chr72218784422187894E07329780
chr72219264122192693E07334577
chr72219428222194338E07336218
chr72219441622194494E07336352
chr72219456322194603E07336499
chr72219592322196131E07337859
chr72219623422196344E07338170
chr72219659122196643E07338527
chr72219724222197476E07339178
chr72219753222197817E07339468
chr72212196022122010E074-36054
chr72212203222122096E074-35968
chr72214324022143645E074-14419
chr72214545922145519E074-12545
chr72214612322146179E074-11885
chr72214660622146660E074-11404
chr72214693522147016E074-11048
chr72214702822147241E074-10823
chr72214783322147891E074-10173
chr72214890922148981E074-9083
chr72214915822149345E074-8719
chr72214941622150448E074-7616
chr72215052222150862E074-7202
chr72215095422151004E074-7060
chr72215114322151201E074-6863
chr72215130722151357E074-6707
chr72215142722151529E074-6535
chr72215161522151723E074-6341
chr72215257322152653E074-5411
chr72215268822152728E074-5336
chr72215274522152982E074-5082
chr72215419822154388E074-3676
chr72215439822154451E074-3613
chr72215463722154693E074-3371
chr72215724622157309E074-755
chr72215732322157411E074-653
chr72215758922157639E074-425
chr72215916122159228E0741097
chr72216021822160282E0742154
chr72216030822160419E0742244
chr72216043222160482E0742368
chr72216048722160567E0742423
chr72216108822161179E0743024
chr72216141522161491E0743351
chr72216158922161649E0743525
chr72216167522162073E0743611
chr72216255422162618E0744490
chr72216274522163164E0744681
chr72216962422169789E07411560
chr72216995122170043E07411887
chr72217005722170124E07411993
chr72217020122170577E07412137
chr72217266522172715E07414601
chr72217304022173167E07414976
chr72217327222173379E07415208
chr72217716322177476E07419099
chr72217757522177646E07419511
chr72217786022178003E07419796
chr72217815022178220E07420086
chr72217827122179265E07420207
chr72218026822180683E07422204
chr72218074522180826E07422681
chr72218110522181417E07423041
chr72218167522181825E07423611
chr72218225222182453E07424188
chr72218315722183295E07425093
chr72218368222183722E07425618
chr72218436722184448E07426303
chr72218465422184708E07426590
chr72218475022184914E07426686
chr72218676122187088E07428697
chr72218784422187894E07429780
chr72218857822188618E07430514
chr72218863422188706E07430570
chr72219000122190127E07431937
chr72219042622190476E07432362
chr72219084122190905E07432777
chr72219168922191743E07433625
chr72219243822192548E07434374
chr72219264122192693E07434577
chr72219276622192816E07434702
chr72219294322192993E07434879
chr72219309422193553E07435030
chr72219356322193826E07435499
chr72219383922194013E07435775
chr72219428222194338E07436218
chr72219441622194494E07436352
chr72219456322194603E07436499
chr72219547522195529E07437411
chr72219592322196131E07437859
chr72219623422196344E07438170
chr72219659122196643E07438527
chr72219724222197476E07439178
chr72219753222197817E07439468
chr72219794922197989E07439885
chr72220103722201117E07442973
chr72220236522202425E07444301
chr72220340922203449E07445345
chr72220787922208041E07449815
chr72211444322114902E081-43162
chr72211516222115529E081-42535
chr72211564922115851E081-42213
chr72218225222182453E08124188
chr72218436722184448E08126303
chr72218676122187088E08128697
chr72216945222169521E08211388
chr72216953822169588E08211474
chr72216962422169789E08211560
chr72216995122170043E08211887
chr72217005722170124E08211993
chr72217020122170577E08212137
chr72218676122187088E08228697










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr72212212922123745E067-34319
chr72212212922123745E068-34319
chr72212212922123745E069-34319
chr72212212922123745E070-34319
chr72212212922123745E071-34319
chr72212212922123745E072-34319
chr72212212922123745E073-34319
chr72212212922123745E074-34319
chr72212212922123745E081-34319
chr72212212922123745E082-34319