rs831620

Homo sapiens
A>G
LOC105376617 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0465 (13923/29930,GnomAD)
G=0442 (12876/29118,TOPMED)
A==0487 (2440/5008,1000G)
G=0403 (1552/3854,ALSPAC)
G=0407 (1511/3708,TWINSUK)
chr11:33687727 (GRCh38.p7) (11p13)
AD
GWASdb2
1   publication(s)
See rs on genome
257 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.33687727A>G
GRCh37.p13 chr 11NC_000011.9:g.33709273A>G

Gene: LOC105376617, uncharacterized LOC105376617(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105376617 transcript variant X3XR_001748167.1:n.N/AIntron Variant
LOC105376617 transcript variant X6XR_001748171.1:n.N/AIntron Variant
LOC105376617 transcript variant X1XR_931170.2:n.N/AIntron Variant
LOC105376617 transcript variant X3XR_001748168.1:n.N/AGenic Upstream Transcript Variant
LOC105376617 transcript variant X4XR_001748169.1:n.N/AGenic Upstream Transcript Variant
LOC105376617 transcript variant X5XR_001748170.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.449G=0.551
1000GenomesAmericanSub694A=0.640G=0.360
1000GenomesEast AsianSub1008A=0.401G=0.599
1000GenomesEuropeSub1006A=0.594G=0.406
1000GenomesGlobalStudy-wide5008A=0.487G=0.513
1000GenomesSouth AsianSub978A=0.410G=0.590
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.597G=0.403
The Genome Aggregation DatabaseAfricanSub8704A=0.475G=0.525
The Genome Aggregation DatabaseAmericanSub836A=0.600G=0.400
The Genome Aggregation DatabaseEast AsianSub1620A=0.362G=0.638
The Genome Aggregation DatabaseEuropeSub18468A=0.573G=0.426
The Genome Aggregation DatabaseGlobalStudy-wide29930A=0.534G=0.465
The Genome Aggregation DatabaseOtherSub302A=0.650G=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.557G=0.442
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.593G=0.407
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
rs8316200.0000387alcoholismpha002893
rs8316200.000039alcohol dependence20201924
rs8316200.00033alcohol dependence(early age of onset)20201924

eQTL of rs831620 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 rs831620 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 )
chr113367350233674804E067-34469
chr113371032833714858E0671055
chr113371662233717158E0677349
chr113372071133724005E06711438
chr113372414933724309E06714876
chr113372433933724435E06715066
chr113372445033724563E06715177
chr113372475233725125E06715479
chr113372532333726625E06716050
chr113372665233727005E06717379
chr113372702533727264E06717752
chr113372735733727417E06718084
chr113372745733727544E06718184
chr113372763133727715E06718358
chr113372790833727977E06718635
chr113372798233728081E06718709
chr113372812333728594E06718850
chr113373744033737513E06728167
chr113373751633737664E06728243
chr113373786333738119E06728590
chr113373819233738277E06728919
chr113373828133738424E06729008
chr113373899833739093E06729725
chr113374273433743684E06733461
chr113374557233747078E06736299
chr113374710333747212E06737830
chr113375215533752215E06742882
chr113375230033752467E06743027
chr113375432933754578E06745056
chr113371032833714858E0681055
chr113371605833716146E0686785
chr113371628533716550E0687012
chr113371662233717158E0687349
chr113371716433717432E0687891
chr113372414933724309E06814876
chr113372433933724435E06815066
chr113372445033724563E06815177
chr113372532333726625E06816050
chr113372665233727005E06817379
chr113372702533727264E06817752
chr113372735733727417E06818084
chr113372745733727544E06818184
chr113372763133727715E06818358
chr113372790833727977E06818635
chr113372798233728081E06818709
chr113372812333728594E06818850
chr113372866433728768E06819391
chr113372882333728904E06819550
chr113372893333728973E06819660
chr113372904533729159E06819772
chr113373569333735839E06826420
chr113373819233738277E06828919
chr113373828133738424E06829008
chr113373899833739093E06829725
chr113374273433743684E06833461
chr113374371033745488E06834437
chr113374557233747078E06836299
chr113374710333747212E06837830
chr113375432933754578E06845056
chr113369090933690976E069-18297
chr113371032833714858E0691055
chr113371576733715842E0696494
chr113371605833716146E0696785
chr113371628533716550E0697012
chr113371662233717158E0697349
chr113371716433717432E0697891
chr113372475233725125E06915479
chr113372532333726625E06916050
chr113372665233727005E06917379
chr113372702533727264E06917752
chr113372735733727417E06918084
chr113372745733727544E06918184
chr113372763133727715E06918358
chr113372812333728594E06918850
chr113372866433728768E06919391
chr113372882333728904E06919550
chr113372893333728973E06919660
chr113372904533729159E06919772
chr113372920733729297E06919934
chr113372950633729852E06920233
chr113373016633730489E06920893
chr113374273433743684E06933461
chr113374371033745488E06934437
chr113374557233747078E06936299
chr113374710333747212E06937830
chr113375313133753263E06943858
chr113375332533753730E06944052
chr113370462933704863E070-4410
chr113370491433704974E070-4299
chr113370504533705085E070-4188
chr113370536933705424E070-3849
chr113370544533705495E070-3778
chr113370552833705578E070-3695
chr113370569833705814E070-3459
chr113370595233706164E070-3109
chr113371032833714858E0701055
chr113371490333715061E0705630
chr113371518333715271E0705910
chr113371527733715529E0706004
chr113371553333715586E0706260
chr113371559733715651E0706324
chr113371567533715719E0706402
chr113371576733715842E0706494
chr113371605833716146E0706785
chr113371628533716550E0707012
chr113371662233717158E0707349
chr113371716433717432E0707891
chr113371752533717704E0708252
chr113371777733717827E0708504
chr113371789133717952E0708618
chr113371802933718255E0708756
chr113371826733718336E0708994
chr113371835433718471E0709081
chr113371848933718810E0709216
chr113371883833719241E0709565
chr113371952233719566E07010249
chr113372071133724005E07011438
chr113372414933724309E07014876
chr113373410533734254E07024832
chr113373482833735624E07025555
chr113373569333735839E07026420
chr113373744033737513E07028167
chr113373751633737664E07028243
chr113373786333738119E07028590
chr113373819233738277E07028919
chr113373828133738424E07029008
chr113374273433743684E07033461
chr113371032833714858E0711055
chr113371490333715061E0715630
chr113371518333715271E0715910
chr113371628533716550E0717012
chr113371662233717158E0717349
chr113371716433717432E0717891
chr113371848933718810E0719216
chr113371883833719241E0719565
chr113371952233719566E07110249
chr113372071133724005E07111438
chr113372414933724309E07114876
chr113372433933724435E07115066
chr113372445033724563E07115177
chr113372475233725125E07115479
chr113372532333726625E07116050
chr113372665233727005E07117379
chr113372702533727264E07117752
chr113372735733727417E07118084
chr113372745733727544E07118184
chr113372763133727715E07118358
chr113372790833727977E07118635
chr113372798233728081E07118709
chr113372812333728594E07118850
chr113372866433728768E07119391
chr113372882333728904E07119550
chr113372893333728973E07119660
chr113372904533729159E07119772
chr113373751633737664E07128243
chr113373786333738119E07128590
chr113373819233738277E07128919
chr113373828133738424E07129008
chr113373899833739093E07129725
chr113374273433743684E07133461
chr113374371033745488E07134437
chr113374557233747078E07136299
chr113374710333747212E07137830
chr113371032833714858E0721055
chr113371605833716146E0726785
chr113371628533716550E0727012
chr113371662233717158E0727349
chr113372475233725125E07215479
chr113372532333726625E07216050
chr113372665233727005E07217379
chr113372702533727264E07217752
chr113372735733727417E07218084
chr113372745733727544E07218184
chr113372763133727715E07218358
chr113372790833727977E07218635
chr113372798233728081E07218709
chr113372812333728594E07218850
chr113373482833735624E07225555
chr113373899833739093E07229725
chr113374557233747078E07236299
chr113374730233747379E07238029
chr113375412633754314E07244853
chr113375432933754578E07245056
chr113367322033673362E073-35911
chr113367339533673460E073-35813
chr113367350233674804E073-34469
chr113371605833716146E0736785
chr113371628533716550E0737012
chr113371662233717158E0737349
chr113371716433717432E0737891
chr113371963633719856E07310363
chr113371987133720301E07310598
chr113372532333726625E07316050
chr113372665233727005E07317379
chr113372702533727264E07317752
chr113372735733727417E07318084
chr113372745733727544E07318184
chr113372763133727715E07318358
chr113373482833735624E07325555
chr113373569333735839E07326420
chr113373744033737513E07328167
chr113374371033745488E07334437
chr113374557233747078E07336299
chr113375215533752215E07342882
chr113375230033752467E07343027
chr113375298633753051E07343713
chr113375313133753263E07343858
chr113375412633754314E07344853
chr113375432933754578E07345056
chr113369067533690837E074-18436
chr113369090933690976E074-18297
chr113369100833691124E074-18149
chr113369129433691389E074-17884
chr113371032833714858E0741055
chr113372414933724309E07414876
chr113372433933724435E07415066
chr113372445033724563E07415177
chr113372475233725125E07415479
chr113372532333726625E07416050
chr113372665233727005E07417379
chr113372702533727264E07417752
chr113372735733727417E07418084
chr113372745733727544E07418184
chr113372763133727715E07418358
chr113372790833727977E07418635
chr113372798233728081E07418709
chr113372812333728594E07418850
chr113372866433728768E07419391
chr113373705633737406E07427783
chr113373744033737513E07428167
chr113373751633737664E07428243
chr113374229133742441E07433018
chr113374246833742625E07433195
chr113374273433743684E07433461
chr113374371033745488E07434437
chr113374557233747078E07436299
chr113374710333747212E07437830
chr113367350233674804E081-34469
chr113371032833714858E0811055
chr113371553333715586E0816260
chr113371559733715651E0816324
chr113371567533715719E0816402
chr113371576733715842E0816494
chr113371605833716146E0816785
chr113371628533716550E0817012
chr113371662233717158E0817349
chr113371716433717432E0817891
chr113371752533717704E0818252
chr113372071133724005E08111438
chr113374273433743684E08133461
chr113375194633751999E08142673
chr113375215533752215E08142882
chr113375230033752467E08143027
chr113371490333715061E0825630
chr113371628533716550E0827012
chr113371662233717158E0827349
chr113371716433717432E0827891