rs11916112

Homo sapiens
G>A
ARHGEF3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0180 (5413/29936,GnomAD)
A=0172 (5029/29118,TOPMED)
A=0140 (703/5008,1000G)
A=0230 (887/3854,ALSPAC)
A=0233 (863/3708,TWINSUK)
chr3:56890683 (GRCh38.p7) (3p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
150 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.56890683G>A
GRCh37.p13 chr 3NC_000003.11:g.56924711G>A

Gene: ARHGEF3, Rho guanine nucleotide exchange factor 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ARHGEF3 transcript variant 1NM_001128615.1:c.N/AIntron Variant
ARHGEF3 transcript variant 4NM_001289698.1:c.N/AIntron Variant
ARHGEF3 transcript variant 2NM_001128616.1:c.N/AGenic Upstream Transcript Variant
ARHGEF3 transcript variant 3NM_019555.2:c.N/AGenic Upstream Transcript Variant
ARHGEF3 transcript variant X1XM_005265186.4:c.N/AIntron Variant
ARHGEF3 transcript variant X2XM_005265187.3:c.N/AIntron Variant
ARHGEF3 transcript variant X3XM_011533764.1:c.N/AIntron Variant
ARHGEF3 transcript variant X7XM_011533765.1:c.N/AIntron Variant
ARHGEF3 transcript variant X8XM_011533766.2:c.N/AIntron Variant
ARHGEF3 transcript variant X13XM_011533767.1:c.N/AIntron Variant
ARHGEF3 transcript variant X4XM_017006502.1:c.N/AIntron Variant
ARHGEF3 transcript variant X9XM_017006503.1:c.N/AIntron Variant
ARHGEF3 transcript variant X10XM_017006504.1:c.N/AIntron Variant
ARHGEF3 transcript variant X11XM_017006505.1:c.N/AGenic Upstream Transcript Variant
ARHGEF3 transcript variant X10XM_017006506.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.936A=0.064
1000GenomesAmericanSub694G=0.880A=0.120
1000GenomesEast AsianSub1008G=0.894A=0.106
1000GenomesEuropeSub1006G=0.753A=0.247
1000GenomesGlobalStudy-wide5008G=0.860A=0.140
1000GenomesSouth AsianSub978G=0.810A=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.770A=0.230
The Genome Aggregation DatabaseAfricanSub8710G=0.902A=0.098
The Genome Aggregation DatabaseAmericanSub834G=0.870A=0.130
The Genome Aggregation DatabaseEast AsianSub1620G=0.915A=0.085
The Genome Aggregation DatabaseEuropeSub18474G=0.769A=0.230
The Genome Aggregation DatabaseGlobalStudy-wide29936G=0.819A=0.180
The Genome Aggregation DatabaseOtherSub298G=0.840A=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.827A=0.172
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.767A=0.233
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
rs119161120.000729alcohol dependence20201924

eQTL of rs11916112 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 rs11916112 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 )
chr35689245656892647E067-32064
chr35689576056895823E067-28888
chr35689643156897153E067-27558
chr35693002756930071E0675316
chr35693008556930131E0675374
chr35694996356950743E06725252
chr35695310756953284E06728396
chr35695328656953400E06728575
chr35695340456954212E06728693
chr35695438756954466E06729676
chr35695751056958491E06732799
chr35689643156897153E068-27558
chr35692897856929444E0684267
chr35695146956952066E06826758
chr35695310756953284E06828396
chr35695328656953400E06828575
chr35695340456954212E06828693
chr35695438756954466E06829676
chr35696002556960079E06835314
chr35696016956960240E06835458
chr35696202256962213E06837311
chr35696223456962368E06837523
chr35696240156962449E06837690
chr35696250656962674E06837795
chr35696269956962799E06837988
chr35688979256889852E069-34859
chr35689245656892647E069-32064
chr35689290856893045E069-31666
chr35689576056895823E069-28888
chr35689643156897153E069-27558
chr35692897856929444E0694267
chr35693002756930071E0695316
chr35693008556930131E0695374
chr35693602856936068E06911317
chr35693633056936380E06911619
chr35694493556945014E06920224
chr35694509456945144E06920383
chr35694519456945807E06920483
chr35695146956952066E06926758
chr35695264156952756E06927930
chr35695310756953284E06928396
chr35695328656953400E06928575
chr35695340456954212E06928693
chr35695438756954466E06929676
chr35695562956956414E06930918
chr35696016956960240E06935458
chr35696036656960471E06935655
chr35696049156961337E06935780
chr35692457256924726E0700
chr35692477056925181E07059
chr35692897856929444E0704267
chr35694996356950743E07025252
chr35689245656892647E071-32064
chr35689576056895823E071-28888
chr35691996556920174E071-4537
chr35692026956920319E071-4392
chr35692897856929444E0714267
chr35693002756930071E0715316
chr35693008556930131E0715374
chr35694519456945807E07120483
chr35694996356950743E07125252
chr35695264156952756E07127930
chr35695310756953284E07128396
chr35695328656953400E07128575
chr35695340456954212E07128693
chr35695562956956414E07130918
chr35695751056958491E07132799
chr35695858456958644E07133873
chr35696002556960079E07135314
chr35696016956960240E07135458
chr35696036656960471E07135655
chr35696049156961337E07135780
chr35696240156962449E07137690
chr35696250656962674E07137795
chr35696269956962799E07137988
chr35688979256889852E072-34859
chr35689001956890167E072-34544
chr35689036356890455E072-34256
chr35689058356890643E072-34068
chr35689245656892647E072-32064
chr35689290856893045E072-31666
chr35689643156897153E072-27558
chr35692799356928089E0723282
chr35693602856936068E07211317
chr35693863356939145E07213922
chr35694519456945807E07220483
chr35695310756953284E07228396
chr35695328656953400E07228575
chr35695340456954212E07228693
chr35695438756954466E07229676
chr35695562956956414E07230918
chr35695751056958491E07232799
chr35696202256962213E07237311
chr35696223456962368E07237523
chr35696240156962449E07237690
chr35696250656962674E07237795
chr35696269956962799E07237988
chr35689643156897153E073-27558
chr35690285356902968E073-21743
chr35690326556903515E073-21196
chr35695264156952756E07327930
chr35696016956960240E07335458
chr35696036656960471E07335655
chr35696049156961337E07335780
chr35688388256883949E074-40762
chr35688396756884022E074-40689
chr35688415756884234E074-40477
chr35689001956890167E074-34544
chr35689036356890455E074-34256
chr35689058356890643E074-34068
chr35689245656892647E074-32064
chr35689290856893045E074-31666
chr35689538456895424E074-29287
chr35689567956895726E074-28985
chr35689576056895823E074-28888
chr35689643156897153E074-27558
chr35693002756930071E0745316
chr35693008556930131E0745374
chr35694996356950743E07425252
chr35695146956952066E07426758
chr35695310756953284E07428396
chr35695328656953400E07428575
chr35695340456954212E07428693
chr35695438756954466E07429676
chr35695751056958491E07432799
chr35695858456958644E07433873
chr35694996356950743E08125252
chr35696393056964009E08139219
chr35696404156964091E08139330
chr35696443756964574E08139726
chr35696487356965182E08140162
chr35696522056965291E08140509
chr35696530856965429E08140597
chr35696572056966304E08141009
chr35696696656967396E08142255
chr35697264556972841E08147934
chr35697363756973841E08148926
chr35697391256974214E08149201
chr35697430356974710E08149592
chr35690802056908248E082-16463
chr35690827856908659E082-16052
chr35690882356908934E082-15777
chr35691400056914264E082-10447
chr35694996356950743E08225252
chr35695146956952066E08226758
chr35696696656967396E08242255
chr35697264556972841E08247934
chr35697363756973841E08248926
chr35697391256974214E08249201
chr35697430356974710E08249592