rs2477735

Homo sapiens
T>C
ARHGEF10L : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0078 (2362/29972,GnomAD)
C=0090 (2645/29118,TOPMED)
C=0066 (333/5008,1000G)
C=0077 (297/3854,ALSPAC)
C=0078 (288/3708,TWINSUK)
chr1:17542684 (GRCh38.p7) (1p36.13)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.17542684T>C
GRCh37.p13 chr 1NC_000001.10:g.17869179T>C

Gene: ARHGEF10L, Rho guanine nucleotide exchange factor 10 like(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ARHGEF10L transcript variant 1NM_018125.3:c.N/AIntron Variant
ARHGEF10L transcript variant 2NM_001011722.2:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant 3NM_001319837.1:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant 4NM_001319838.1:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X2XM_005245923.2:c.N/AIntron Variant
ARHGEF10L transcript variant X9XM_005245925.2:c.N/AIntron Variant
ARHGEF10L transcript variant X1XM_006710728.1:c.N/AIntron Variant
ARHGEF10L transcript variant X7XM_006710729.1:c.N/AIntron Variant
ARHGEF10L transcript variant X6XM_006710731.1:c.N/AIntron Variant
ARHGEF10L transcript variant X12XM_017001617.1:c.N/AIntron Variant
ARHGEF10L transcript variant X12XM_005245927.2:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X13XM_005245929.2:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X8XM_011541691.2:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X10XM_011541692.2:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X11XM_011541693.2:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X21XM_011541695.2:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X23XM_011541696.2:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X16XM_017001618.1:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X17XM_017001619.1:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X18XM_017001620.1:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X26XM_017001621.1:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X27XM_017001622.1:c.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X14XR_001737276.1:n.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X19XR_001737277.1:n.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X10XR_946686.2:n.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X20XR_946688.2:n.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X21XR_946689.2:n.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X22XR_946690.2:n.N/AGenic Upstream Transcript Variant
ARHGEF10L transcript variant X24XR_946691.2:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.883C=0.117
1000GenomesAmericanSub694T=0.950C=0.050
1000GenomesEast AsianSub1008T=0.994C=0.006
1000GenomesEuropeSub1006T=0.933C=0.067
1000GenomesGlobalStudy-wide5008T=0.934C=0.066
1000GenomesSouth AsianSub978T=0.930C=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.923C=0.077
The Genome Aggregation DatabaseAfricanSub8722T=0.897C=0.103
The Genome Aggregation DatabaseAmericanSub838T=0.960C=0.040
The Genome Aggregation DatabaseEast AsianSub1622T=0.992C=0.008
The Genome Aggregation DatabaseEuropeSub18488T=0.924C=0.076
The Genome Aggregation DatabaseGlobalStudy-wide29972T=0.921C=0.078
The Genome Aggregation DatabaseOtherSub302T=0.970C=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.909C=0.090
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.922C=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
rs24777350.00027alcohol dependence20201924

eQTL of rs2477735 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 rs2477735 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 )
chr11782877917829278E067-39901
chr11782928617829561E067-39618
chr11786406017864129E067-5050
chr11786460117865711E067-3468
chr11787389417874069E0674715
chr11787721717877839E0678038
chr11787789217877956E0678713
chr11787803117878131E0678852
chr11788813817888493E06718959
chr11789055417890642E06721375
chr11789100517891146E06721826
chr11789127417891388E06722095
chr11789140617891589E06722227
chr11789169917892037E06722520
chr11789208617892255E06722907
chr11789230317892587E06723124
chr11789302117893284E06723842
chr11789353817893619E06724359
chr11789376217893836E06724583
chr11789414517894467E06724966
chr11789463817894698E06725459
chr11789517017895335E06725991
chr11789545117895614E06726272
chr11789565917896724E06726480
chr11789675817896982E06727579
chr11789710417897231E06727925
chr11789768717897766E06728508
chr11789889217899011E06729713
chr11789903417899159E06729855
chr11789916317899424E06729984
chr11789945817899582E06730279
chr11789964117899737E06730462
chr11789987717900574E06730698
chr11790076117900811E06731582
chr11791368817913795E06744509
chr11782928617829561E068-39618
chr11785814017858939E068-10240
chr11785894217858991E068-10188
chr11786031517860416E068-8763
chr11786218317862377E068-6802
chr11786406017864129E068-5050
chr11786460117865711E068-3468
chr11787159617872206E0682417
chr11787343517873511E0684256
chr11787351217873768E0684333
chr11787389417874069E0684715
chr11787704317877187E0687864
chr11787721717877839E0688038
chr11787789217877956E0688713
chr11787803117878131E0688852
chr11787820517878821E0689026
chr11788813817888493E06818959
chr11788906817889241E06819889
chr11788976117889821E06820582
chr11789055417890642E06821375
chr11789100517891146E06821826
chr11789127417891388E06822095
chr11789140617891589E06822227
chr11789169917892037E06822520
chr11789208617892255E06822907
chr11789230317892587E06823124
chr11789302117893284E06823842
chr11789353817893619E06824359
chr11789463817894698E06825459
chr11789517017895335E06825991
chr11789545117895614E06826272
chr11789565917896724E06826480
chr11789675817896982E06827579
chr11789710417897231E06827925
chr11789768717897766E06828508
chr11789876917898842E06829590
chr11789889217899011E06829713
chr11789903417899159E06829855
chr11789916317899424E06829984
chr11789945817899582E06830279
chr11789964117899737E06830462
chr11789987717900574E06830698
chr11790076117900811E06831582
chr11790102517901118E06831846
chr11790114317901378E06831964
chr11790196917902037E06832790
chr11791380817915364E06844629
chr11782877917829278E069-39901
chr11782928617829561E069-39618
chr11785375917853921E069-15258
chr11785814017858939E069-10240
chr11785894217858991E069-10188
chr11786460117865711E069-3468
chr11787159617872206E0692417
chr11787389417874069E0694715
chr11787431217874668E0695133
chr11787721717877839E0698038
chr11787789217877956E0698713
chr11787803117878131E0698852
chr11787820517878821E0699026
chr11788771617888024E06918537
chr11788813817888493E06918959
chr11788906817889241E06919889
chr11789055417890642E06921375
chr11789100517891146E06921826
chr11789127417891388E06922095
chr11789140617891589E06922227
chr11789169917892037E06922520
chr11789208617892255E06922907
chr11789230317892587E06923124
chr11789302117893284E06923842
chr11789517017895335E06925991
chr11789545117895614E06926272
chr11789565917896724E06926480
chr11789675817896982E06927579
chr11789710417897231E06927925
chr11789876917898842E06929590
chr11789889217899011E06929713
chr11789903417899159E06929855
chr11789916317899424E06929984
chr11789945817899582E06930279
chr11789964117899737E06930462
chr11789987717900574E06930698
chr11790076117900811E06931582
chr11790102517901118E06931846
chr11790114317901378E06931964
chr11782877917829278E070-39901
chr11782928617829561E070-39618
chr11785814017858939E070-10240
chr11785894217858991E070-10188
chr11786218317862377E070-6802
chr11786258617862699E070-6480
chr11786307917863269E070-5910
chr11786406017864129E070-5050
chr11787159617872206E0702417
chr11787241717872520E0703238
chr11787290017873211E0703721
chr11787389417874069E0704715
chr11787431217874668E0705133
chr11787482017875107E0705641
chr11787721717877839E0708038
chr11787789217877956E0708713
chr11787803117878131E0708852
chr11787820517878821E0709026
chr11788771617888024E07018537
chr11789055417890642E07021375
chr11789100517891146E07021826
chr11789127417891388E07022095
chr11789140617891589E07022227
chr11789302117893284E07023842
chr11789353817893619E07024359
chr11789517017895335E07025991
chr11789545117895614E07026272
chr11789565917896724E07026480
chr11789768717897766E07028508
chr11789876917898842E07029590
chr11789889217899011E07029713
chr11789903417899159E07029855
chr11789916317899424E07029984
chr11789945817899582E07030279
chr11789964117899737E07030462
chr11789987717900574E07030698
chr11790076117900811E07031582
chr11790102517901118E07031846
chr11790114317901378E07031964
chr11790196917902037E07032790
chr11790215617902615E07032977
chr11790262117902669E07033442
chr11790271617902897E07033537
chr11790291517903042E07033736
chr11791368817913795E07044509
chr11782877917829278E071-39901
chr11782928617829561E071-39618
chr11782971217829992E071-39187
chr11785375917853921E071-15258
chr11785407017854336E071-14843
chr11785814017858939E071-10240
chr11785894217858991E071-10188
chr11786460117865711E071-3468
chr11786920717869548E07128
chr11786959417869644E071415
chr11787159617872206E0712417
chr11787241717872520E0713238
chr11787290017873211E0713721
chr11787343517873511E0714256
chr11787351217873768E0714333
chr11787389417874069E0714715
chr11787721717877839E0718038
chr11787789217877956E0718713
chr11787803117878131E0718852
chr11787820517878821E0719026
chr11788749517887549E07118316
chr11788813817888493E07118959
chr11788906817889241E07119889
chr11788976117889821E07120582
chr11789055417890642E07121375
chr11789100517891146E07121826
chr11789127417891388E07122095
chr11789140617891589E07122227
chr11789169917892037E07122520
chr11789208617892255E07122907
chr11789230317892587E07123124
chr11789302117893284E07123842
chr11789353817893619E07124359
chr11789414517894467E07124966
chr11789463817894698E07125459
chr11789517017895335E07125991
chr11789545117895614E07126272
chr11789565917896724E07126480
chr11789675817896982E07127579
chr11789710417897231E07127925
chr11789768717897766E07128508
chr11789876917898842E07129590
chr11789889217899011E07129713
chr11789903417899159E07129855
chr11789916317899424E07129984
chr11789945817899582E07130279
chr11789964117899737E07130462
chr11789987717900574E07130698
chr11790076117900811E07131582
chr11790102517901118E07131846
chr11790114317901378E07131964
chr11790196917902037E07132790
chr11790215617902615E07132977
chr11791380817915364E07144629
chr11782877917829278E072-39901
chr11782928617829561E072-39618
chr11785814017858939E072-10240
chr11787159617872206E0722417
chr11787721717877839E0728038
chr11787789217877956E0728713
chr11787803117878131E0728852
chr11788749517887549E07218316
chr11788771617888024E07218537
chr11788813817888493E07218959
chr11789055417890642E07221375
chr11789100517891146E07221826
chr11789127417891388E07222095
chr11789140617891589E07222227
chr11789169917892037E07222520
chr11789208617892255E07222907
chr11789230317892587E07223124
chr11789302117893284E07223842
chr11789517017895335E07225991
chr11789545117895614E07226272
chr11789565917896724E07226480
chr11789675817896982E07227579
chr11789710417897231E07227925
chr11789768717897766E07228508
chr11789916317899424E07229984
chr11789945817899582E07230279
chr11789964117899737E07230462
chr11789987717900574E07230698
chr11790076117900811E07231582
chr11790102517901118E07231846
chr11790114317901378E07231964
chr11791380817915364E07244629
chr11785814017858939E073-10240
chr11785894217858991E073-10188
chr11786218317862377E073-6802
chr11786258617862699E073-6480
chr11786460117865711E073-3468
chr11787159617872206E0732417
chr11787241717872520E0733238
chr11787290017873211E0733721
chr11787343517873511E0734256
chr11787351217873768E0734333
chr11787389417874069E0734715
chr11787431217874668E0735133
chr11787704317877187E0737864
chr11787721717877839E0738038
chr11787789217877956E0738713
chr11787803117878131E0738852
chr11787820517878821E0739026
chr11788771617888024E07318537
chr11788813817888493E07318959
chr11788906817889241E07319889
chr11789055417890642E07321375
chr11789100517891146E07321826
chr11789127417891388E07322095
chr11789140617891589E07322227
chr11789169917892037E07322520
chr11789208617892255E07322907
chr11789230317892587E07323124
chr11789302117893284E07323842
chr11789353817893619E07324359
chr11789463817894698E07325459
chr11789517017895335E07325991
chr11789545117895614E07326272
chr11789565917896724E07326480
chr11789675817896982E07327579
chr11789710417897231E07327925
chr11789889217899011E07329713
chr11789903417899159E07329855
chr11789916317899424E07329984
chr11789945817899582E07330279
chr11789964117899737E07330462
chr11789987717900574E07330698
chr11790076117900811E07331582
chr11790102517901118E07331846
chr11790114317901378E07331964
chr11790196917902037E07332790
chr11782877917829278E074-39901
chr11782928617829561E074-39618
chr11785342917853489E074-15690
chr11785358617853636E074-15543
chr11785365317853713E074-15466
chr11785375917853921E074-15258
chr11785407017854336E074-14843
chr11785814017858939E074-10240
chr11785894217858991E074-10188
chr11786460117865711E074-3468
chr11787290017873211E0743721
chr11787343517873511E0744256
chr11787351217873768E0744333
chr11787389417874069E0744715
chr11787704317877187E0747864
chr11787721717877839E0748038
chr11787789217877956E0748713
chr11787803117878131E0748852
chr11787820517878821E0749026
chr11788749517887549E07418316
chr11788771617888024E07418537
chr11788813817888493E07418959
chr11788906817889241E07419889
chr11788976117889821E07420582
chr11789055417890642E07421375
chr11789100517891146E07421826
chr11789127417891388E07422095
chr11789140617891589E07422227
chr11789169917892037E07422520
chr11789208617892255E07422907
chr11789230317892587E07423124
chr11789302117893284E07423842
chr11789414517894467E07424966
chr11789463817894698E07425459
chr11789517017895335E07425991
chr11789545117895614E07426272
chr11789565917896724E07426480
chr11789675817896982E07427579
chr11789710417897231E07427925
chr11789768717897766E07428508
chr11789876917898842E07429590
chr11789889217899011E07429713
chr11789903417899159E07429855
chr11789916317899424E07429984
chr11789945817899582E07430279
chr11789964117899737E07430462
chr11789987717900574E07430698
chr11790076117900811E07431582
chr11790102517901118E07431846
chr11790114317901378E07431964
chr11790196917902037E07432790
chr11790215617902615E07432977
chr11790262117902669E07433442
chr11790271617902897E07433537
chr11790291517903042E07433736
chr11790311617903171E07433937
chr11791264417913675E07443465
chr11791368817913795E07444509
chr11791380817915364E07444629
chr11786460117865711E081-3468
chr11787159617872206E0812417
chr11787241717872520E0813238
chr11787290017873211E0813721
chr11787343517873511E0814256
chr11787351217873768E0814333
chr11787389417874069E0814715
chr11787721717877839E0818038
chr11787789217877956E0818713
chr11788771617888024E08118537
chr11789055417890642E08121375
chr11789100517891146E08121826
chr11789127417891388E08122095
chr11789140617891589E08122227
chr11789169917892037E08122520
chr11789208617892255E08122907
chr11789230317892587E08123124
chr11789876917898842E08129590
chr11789889217899011E08129713
chr11789903417899159E08129855
chr11789916317899424E08129984
chr11789945817899582E08130279
chr11789964117899737E08130462
chr11789987717900574E08130698
chr11790076117900811E08131582
chr11787159617872206E0822417
chr11787241717872520E0823238
chr11787290017873211E0823721
chr11787343517873511E0824256
chr11787351217873768E0824333
chr11788771617888024E08218537
chr11788813817888493E08218959
chr11789140617891589E08222227
chr11789169917892037E08222520
chr11789230317892587E08223124
chr11789302117893284E08223842
chr11789353817893619E08224359
chr11789376217893836E08224583
chr11789916317899424E08229984
chr11789945817899582E08230279
chr11789964117899737E08230462
chr11789987717900574E08230698
chr11791223417912360E08243055










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr11786609817866238E067-2941
chr11786624317867757E067-1422
chr11786609817866238E068-2941
chr11786624317867757E068-1422
chr11786609817866238E069-2941
chr11786624317867757E069-1422
chr11786609817866238E070-2941
chr11786624317867757E070-1422
chr11786609817866238E071-2941
chr11786624317867757E071-1422
chr11786609817866238E072-2941
chr11786624317867757E072-1422
chr11786609817866238E073-2941
chr11786624317867757E073-1422
chr11786609817866238E074-2941
chr11786624317867757E074-1422
chr11786624317867757E081-1422
chr11786609817866238E082-2941
chr11786624317867757E082-1422