rs12108602

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0185 (5544/29916,GnomAD)
G=0189 (5515/29118,TOPMED)
G=0186 (931/5008,1000G)
G=0180 (694/3854,ALSPAC)
G=0174 (644/3708,TWINSUK)
chr4:114719413 (GRCh38.p7) (4q26)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.114719413A>G
GRCh37.p13 chr 4NC_000004.11:g.115640569A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.831G=0.169
1000GenomesAmericanSub694A=0.760G=0.240
1000GenomesEast AsianSub1008A=0.771G=0.229
1000GenomesEuropeSub1006A=0.823G=0.177
1000GenomesGlobalStudy-wide5008A=0.814G=0.186
1000GenomesSouth AsianSub978A=0.860G=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.820G=0.180
The Genome Aggregation DatabaseAfricanSub8716A=0.814G=0.186
The Genome Aggregation DatabaseAmericanSub830A=0.780G=0.220
The Genome Aggregation DatabaseEast AsianSub1614A=0.761G=0.239
The Genome Aggregation DatabaseEuropeSub18454A=0.819G=0.180
The Genome Aggregation DatabaseGlobalStudy-wide29916A=0.814G=0.185
The Genome Aggregation DatabaseOtherSub302A=0.900G=0.100
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.810G=0.189
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.826G=0.174
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs121086021.5E-07alcohol consumption23953852

eQTL of rs12108602 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 rs12108602 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 )
chr4115595366115595519E067-45050
chr4115595796115595921E067-44648
chr4115598883115599002E067-41567
chr4115609317115609417E067-31152
chr4115619068115619141E067-21428
chr4115619197115619388E067-21181
chr4115598883115599002E068-41567
chr4115609317115609417E068-31152
chr4115595366115595519E069-45050
chr4115595796115595921E069-44648
chr4115598883115599002E069-41567
chr4115609317115609417E069-31152
chr4115619197115619388E069-21181
chr4115619440115619734E069-20835
chr4115619908115620006E069-20563
chr4115632970115633068E069-7501
chr4115609317115609417E070-31152
chr4115595366115595519E071-45050
chr4115597182115597259E071-43310
chr4115597651115597787E071-42782
chr4115597867115597982E071-42587
chr4115609317115609417E071-31152
chr4115619068115619141E071-21428
chr4115619197115619388E071-21181
chr4115619440115619734E071-20835
chr4115619908115620006E071-20563
chr4115679433115679520E07138864
chr4115598883115599002E072-41567
chr4115609317115609417E072-31152
chr4115619068115619141E072-21428
chr4115619197115619388E072-21181
chr4115619440115619734E072-20835
chr4115680773115680823E07240204
chr4115595796115595921E074-44648
chr4115609317115609417E074-31152
chr4115619068115619141E074-21428
chr4115619197115619388E074-21181
chr4115632970115633068E074-7501
chr4115679433115679520E07438864
chr4115680773115680823E07440204
chr4115597651115597787E081-42782
chr4115597867115597982E081-42587