rs670142

Homo sapiens
A>C
KRT73 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0350 (10467/29864,GnomAD)
A==0341 (9930/29118,TOPMED)
A==0342 (1711/5008,1000G)
A==0346 (1333/3854,ALSPAC)
A==0340 (1260/3708,TWINSUK)
chr12:52607203 (GRCh38.p7) (12q13.13)
CD
GWASdb2
1   publication(s)
See rs on genome
48 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.52607203A>C
GRCh37.p13 chr 12NC_000012.11:g.53000987A>C
KRT73 RefSeqGeneNG_012319.1:g.16357T>G

Gene: KRT73, keratin 73(minus strand)

Molecule type Change Amino acid[Codon] SO Term
KRT73 transcriptNM_175068.2:c.N/AGenic Downstream Transcript Variant
KRT73 transcript variant X1XM_011538257.2:c.N/A3 Prime UTR Variant
KRT73 transcript variant X2XR_001748677.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.368C=0.632
1000GenomesAmericanSub694A=0.400C=0.600
1000GenomesEast AsianSub1008A=0.252C=0.748
1000GenomesEuropeSub1006A=0.363C=0.637
1000GenomesGlobalStudy-wide5008A=0.342C=0.658
1000GenomesSouth AsianSub978A=0.340C=0.660
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.346C=0.654
The Genome Aggregation DatabaseAfricanSub8674A=0.360C=0.640
The Genome Aggregation DatabaseAmericanSub836A=0.440C=0.560
The Genome Aggregation DatabaseEast AsianSub1614A=0.224C=0.776
The Genome Aggregation DatabaseEuropeSub18440A=0.351C=0.648
The Genome Aggregation DatabaseGlobalStudy-wide29864A=0.350C=0.649
The Genome Aggregation DatabaseOtherSub300A=0.440C=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.341C=0.659
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.340C=0.660
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs6701420.000709cocaine dependence23958962

eQTL of rs670142 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 rs670142 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 )
chr125302776953027809E06726782
chr125302782153027890E06726834
chr125302806053028124E06727073
chr125302815153028521E06727164
chr125302864853028711E06727661
chr125302806053028124E06827073
chr125302815153028521E06827164
chr125304299953043049E06842012
chr125304319553043263E06842208
chr125304327153043326E06842284
chr125302776953027809E06926782
chr125302782153027890E06926834
chr125302806053028124E06927073
chr125302815153028521E06927164
chr125302864853028711E06927661
chr125302723453027549E07026247
chr125302756053027718E07026573
chr125302776953027809E07026782
chr125302782153027890E07026834
chr125302806053028124E07027073
chr125302815153028521E07027164
chr125302864853028711E07027661
chr125296169752961871E071-39116
chr125296241952962469E071-38518
chr125296255152962601E071-38386
chr125302776953027809E07126782
chr125302782153027890E07126834
chr125302806053028124E07127073
chr125302815153028521E07127164
chr125302864853028711E07127661
chr125304299953043049E07142012
chr125304319553043263E07142208
chr125304327153043326E07142284
chr125296169752961871E072-39116
chr125296241952962469E072-38518
chr125302756053027718E07226573
chr125302776953027809E07226782
chr125302782153027890E07226834
chr125302806053028124E07227073
chr125302815153028521E07227164
chr125302815153028521E07327164
chr125296169752961871E074-39116
chr125302776953027809E07426782
chr125302782153027890E07426834
chr125302806053028124E07427073
chr125302815153028521E07427164
chr125302806053028124E08127073
chr125302815153028521E08127164