rs14024

Homo sapiens
T>C
KRT1 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0305 (36787/120586,ExAC)
C=0264 (7893/29852,GnomAD)
C=0182 (5311/29110,TOPMED)
T==0223 (2905/13006,GO-ESP)
C=0276 (1380/5008,1000G)
C=0300 (1157/3854,ALSPAC)
C=0304 (1126/3708,TWINSUK)
chr12:52675230 (GRCh38.p7) (12q13.13)
AD
GWASdb2
2   publication(s)
See rs on genome
59 Enhancers around
8 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.52675230T>C
GRCh37.p13 chr 12NC_000012.11:g.53069014T>C
KRT1 RefSeqGeneNG_008364.1:g.10178A>G

Gene: KRT1, keratin 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KRT1 transcriptNM_006121.3:c.189...NM_006121.3:c.1898A>GK [AAG]> R [AGG]Coding Sequence Variant
keratin, type II cytoskeletal 1NP_006112.3:p.Lys...NP_006112.3:p.Lys633ArgK [Lys]> R [Arg]Missense Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.978C=0.022
1000GenomesAmericanSub694T=0.750C=0.250
1000GenomesEast AsianSub1008T=0.422C=0.578
1000GenomesEuropeSub1006T=0.669C=0.331
1000GenomesGlobalStudy-wide5008T=0.724C=0.276
1000GenomesSouth AsianSub978T=0.730C=0.270
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.700C=0.300
The Exome Aggregation ConsortiumAmericanSub21728T=0.817C=0.182
The Exome Aggregation ConsortiumAsianSub25078T=0.615C=0.385
The Exome Aggregation ConsortiumEuropeSub72882T=0.685C=0.314
The Exome Aggregation ConsortiumGlobalStudy-wide120586T=0.694C=0.305
The Exome Aggregation ConsortiumOtherSub898T=0.690C=0.310
The Genome Aggregation DatabaseAfricanSub8696T=0.934C=0.066
The Genome Aggregation DatabaseAmericanSub836T=0.700C=0.300
The Genome Aggregation DatabaseEast AsianSub1604T=0.426C=0.574
The Genome Aggregation DatabaseEuropeSub18414T=0.671C=0.328
The Genome Aggregation DatabaseGlobalStudy-wide29852T=0.735C=0.264
The Genome Aggregation DatabaseOtherSub302T=0.690C=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29110T=0.817C=0.182
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.696C=0.304
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
17668073In vitro human keratinocyte migration rates are associated with SNPs in the KRT1 interval.Tao HPLoS One

P-Value

SNP ID p-value Traits Study
rs140240.0000286alcoholismpha002893
rs140240.000029alcohol dependence20201924
rs140240.00049alcohol dependence(early age of onset)20201924

eQTL of rs14024 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 rs14024 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 )
chr125302776953027809E067-41205
chr125302782153027890E067-41124
chr125302806053028124E067-40890
chr125302815153028521E067-40493
chr125302864853028711E067-40303
chr125308443353084530E06715419
chr125302806053028124E068-40890
chr125302815153028521E068-40493
chr125304299953043049E068-25965
chr125304319553043263E068-25751
chr125304327153043326E068-25688
chr125306688653067366E068-1648
chr125306742753067467E068-1547
chr125308443353084530E06815419
chr125302776953027809E069-41205
chr125302782153027890E069-41124
chr125302806053028124E069-40890
chr125302815153028521E069-40493
chr125302864853028711E069-40303
chr125308443353084530E06915419
chr125302723453027549E070-41465
chr125302756053027718E070-41296
chr125302776953027809E070-41205
chr125302782153027890E070-41124
chr125302806053028124E070-40890
chr125302815153028521E070-40493
chr125302864853028711E070-40303
chr125305264853052713E070-16301
chr125305282953052921E070-16093
chr125307596553076019E0706951
chr125307705653077128E0708042
chr125307715553077259E0708141
chr125307794053077991E0708926
chr125302776953027809E071-41205
chr125302782153027890E071-41124
chr125302806053028124E071-40890
chr125302815153028521E071-40493
chr125302864853028711E071-40303
chr125304299953043049E071-25965
chr125304319553043263E071-25751
chr125304327153043326E071-25688
chr125302756053027718E072-41296
chr125302776953027809E072-41205
chr125302782153027890E072-41124
chr125302806053028124E072-40890
chr125302815153028521E072-40493
chr125302815153028521E073-40493
chr125308443353084530E07315419
chr125302776953027809E074-41205
chr125302782153027890E074-41124
chr125302806053028124E074-40890
chr125302815153028521E074-40493
chr125302806053028124E081-40890
chr125302815153028521E081-40493
chr125307596553076019E0816951
chr125307613753076191E0817123
chr125307621053076317E0817196
chr125307644653076500E0817432
chr125307652553076623E0817511









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr125308459153085497E06715577
chr125308459153085497E06915577
chr125308459153085497E07015577
chr125310775653108929E07038742
chr125308459153085497E07115577
chr125308459153085497E07215577
chr125308459153085497E08215577
chr125310775653108929E08238742