rs2220846

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0390 (11690/29902,GnomAD)
C=0404 (11780/29118,TOPMED)
C=0323 (1619/5008,1000G)
C=0415 (1600/3854,ALSPAC)
C=0407 (1510/3708,TWINSUK)
chr5:57479107 (GRCh38.p7) (5q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
39 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.57479107T>C
GRCh37.p13 chr 5NC_000005.9:g.56774934T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.591C=0.409
1000GenomesAmericanSub694T=0.670C=0.330
1000GenomesEast AsianSub1008T=0.972C=0.028
1000GenomesEuropeSub1006T=0.568C=0.432
1000GenomesGlobalStudy-wide5008T=0.677C=0.323
1000GenomesSouth AsianSub978T=0.600C=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.585C=0.415
The Genome Aggregation DatabaseAfricanSub8702T=0.593C=0.407
The Genome Aggregation DatabaseAmericanSub834T=0.660C=0.340
The Genome Aggregation DatabaseEast AsianSub1614T=0.976C=0.024
The Genome Aggregation DatabaseEuropeSub18450T=0.582C=0.417
The Genome Aggregation DatabaseGlobalStudy-wide29902T=0.609C=0.390
The Genome Aggregation DatabaseOtherSub302T=0.600C=0.400
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.595C=0.404
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.593C=0.407
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs22208466.69E-05alcohol consumptionpha001399

eQTL of rs2220846 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 rs2220846 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 )
chr55679574456795788E06720810
chr55679721156798321E06722277
chr55679721156798321E06822277
chr55679721156798321E06922277
chr55674675656746849E070-28085
chr55674689156747805E070-27129
chr55674782256747906E070-27028
chr55675187056752632E070-22302
chr55679131356791463E07016379
chr55679158956791678E07016655
chr55679176656791890E07016832
chr55679509656795629E07020162
chr55679574456795788E07020810
chr55679684556796895E07021911
chr55679696656797123E07022032
chr55679721156798321E07022277
chr55679921056799276E07024276
chr55680097456801069E07026040
chr55678904856789094E07114114
chr55679721156798321E07122277
chr55679721156798321E07222277
chr55674842556748486E073-26448
chr55679509656795629E07320162
chr55679574456795788E07320810
chr55679721156798321E07322277
chr55679574456795788E07420810
chr55679721156798321E07422277
chr55672551856725580E081-49354
chr55672559856726062E081-48872
chr55676253256762738E081-12196
chr55678869056788786E08113756
chr55678904856789094E08114114
chr55678990756790283E08114973
chr55680097456801069E08126040
chr55680116956801426E08126235
chr55672551856725580E082-49354
chr55672559856726062E082-48872
chr55676253256762738E082-12196
chr55676298456763436E082-11498