rs12312467

Homo sapiens
G>A
KRT3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0080 (2402/29972,GnomAD)
A=0072 (2107/29118,TOPMED)
A=0188 (942/5008,1000G)
G==0045 (204/4566,GO-ESP)
A=0035 (133/3854,ALSPAC)
A=0034 (126/3708,TWINSUK)
chr12:52790941 (GRCh38.p7) (12q13.13)
ND
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.52790941G>A
GRCh37.p13 chr 12NC_000012.11:g.53184725G>A
KRT3 RefSeqGeneNG_008350.1:g.10168C>T

Gene: KRT3, keratin 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KRT3 transcriptNM_057088.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.921A=0.079
1000GenomesAmericanSub694G=0.790A=0.210
1000GenomesEast AsianSub1008G=0.484A=0.516
1000GenomesEuropeSub1006G=0.969A=0.031
1000GenomesGlobalStudy-wide5008G=0.812A=0.188
1000GenomesSouth AsianSub978G=0.860A=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.965A=0.035
The Genome Aggregation DatabaseAfricanSub8726G=0.930A=0.070
The Genome Aggregation DatabaseAmericanSub836G=0.770A=0.230
The Genome Aggregation DatabaseEast AsianSub1610G=0.436A=0.564
The Genome Aggregation DatabaseEuropeSub18498G=0.963A=0.037
The Genome Aggregation DatabaseGlobalStudy-wide29972G=0.919A=0.080
The Genome Aggregation DatabaseOtherSub302G=0.980A=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.927A=0.072
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.966A=0.034
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs123124671.3E-06alcohol and nictotine co-dependence20158304

eQTL of rs12312467 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 rs12312467 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 )
chr125319769253197732E07012967
chr125319788353197990E07013158
chr125319402253194206E0739297
chr125318440053184450E081-275