rs12472627

Homo sapiens
C>T
LOC101929356 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0187 (5596/29932,GnomAD)
C==0212 (6193/29118,TOPMED)
C==0293 (1468/5008,1000G)
C==0084 (323/3854,ALSPAC)
C==0078 (291/3708,TWINSUK)
chr2:151776600 (GRCh38.p7) (2q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
42 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.151776600C>T
GRCh37.p13 chr 2NC_000002.11:g.152633114C>T

Gene: LOC101929356, uncharacterized LOC101929356(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101929356 transcript variant X3XR_241333.3:n.566...XR_241333.3:n.5667G>AG>ANon Coding Transcript Variant
LOC101929356 transcript variant X4XR_923474.2:n.565...XR_923474.2:n.5651G>AG>ANon Coding Transcript Variant
LOC101929356 transcript variant X1XR_001739736.1:n.N/AGenic Downstream Transcript Variant
LOC101929356 transcript variant X2XR_923473.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.441T=0.559
1000GenomesAmericanSub694C=0.070T=0.930
1000GenomesEast AsianSub1008C=0.429T=0.571
1000GenomesEuropeSub1006C=0.109T=0.891
1000GenomesGlobalStudy-wide5008C=0.293T=0.707
1000GenomesSouth AsianSub978C=0.300T=0.700
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.084T=0.916
The Genome Aggregation DatabaseAfricanSub8688C=0.358T=0.642
The Genome Aggregation DatabaseAmericanSub838C=0.080T=0.920
The Genome Aggregation DatabaseEast AsianSub1612C=0.408T=0.592
The Genome Aggregation DatabaseEuropeSub18492C=0.093T=0.906
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.187T=0.813
The Genome Aggregation DatabaseOtherSub302C=0.140T=0.860
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.212T=0.787
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.078T=0.922
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs124726270.000482alcohol dependence21314694

eQTL of rs12472627 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 rs12472627 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 )
chr2152680186152680272E06747072
chr2152680286152680432E06747172
chr2152680489152680539E06747375
chr2152681229152681289E06748115
chr2152677290152677391E06844176
chr2152679531152679687E06846417
chr2152680489152680539E06847375
chr2152681229152681289E06848115
chr2152681426152681497E06848312
chr2152681534152681640E06848420
chr2152665464152665736E06932350
chr2152680186152680272E06947072
chr2152680286152680432E06947172
chr2152643081152643336E0709967
chr2152680186152680272E07047072
chr2152680286152680432E07047172
chr2152680489152680539E07047375
chr2152681229152681289E07048115
chr2152674421152674989E07141307
chr2152679007152679415E07145893
chr2152679531152679687E07146417
chr2152680186152680272E07147072
chr2152680286152680432E07147172
chr2152680489152680539E07147375
chr2152681229152681289E07148115
chr2152681426152681497E07148312
chr2152681534152681640E07148420
chr2152681701152681918E07148587
chr2152681947152681987E07148833
chr2152682114152682194E07149000
chr2152616699152616851E072-16263
chr2152616868152617048E072-16066
chr2152631487152631910E072-1204
chr2152616699152616851E073-16263
chr2152680186152680272E07347072
chr2152680286152680432E07347172
chr2152680489152680539E07347375
chr2152681229152681289E07348115
chr2152681426152681497E07348312
chr2152681534152681640E07348420
chr2152679007152679415E07445893
chr2152679531152679687E07446417