rs62635294
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs62635294(A;G) |
Make rs62635294(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 12 |
Position | 52492678 |
Gene | KRT6A, LOC107984511 |
is a | snp |
is | mentioned by |
dbSNP | rs62635294 |
dbSNP (classic) | rs62635294 |
ClinGen | rs62635294 |
ebi | rs62635294 |
HLI | rs62635294 |
Exac | rs62635294 |
Gnomad | rs62635294 |
Varsome | rs62635294 |
LitVar | rs62635294 |
Map | rs62635294 |
PheGenI | rs62635294 |
Biobank | rs62635294 |
1000 genomes | rs62635294 |
hgdp | rs62635294 |
ensembl | rs62635294 |
geneview | rs62635294 |
scholar | rs62635294 |
rs62635294 | |
pharmgkb | rs62635294 |
gwascentral | rs62635294 |
openSNP | rs62635294 |
23andMe | rs62635294 |
SNPshot | rs62635294 |
SNPdbe | rs62635294 |
MSV3d | rs62635294 |
GWAS Ctlg | rs62635294 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62635294(C;C) rs62635294(G;G) rs62635294(T;T) |
Alt | rs62635294(C;C) rs62635294(G;G) rs62635294(T;T) |
Reference | Rs62635294(A;A) |
Significance | Pathogenic |
Disease | not provided PC-K6a |
Variation | info |
Gene | KRT6A |
CLNDBN | not provided PC-K6a |
Reversed | 1 |
HGVS | NC_000012.11:g.52886462T>A; NC_000012.11:g.52886462T>C; NC_000012.11:g.52886462T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057008.1, RCV000128819.2, RCV000057007.2, RCV000128818.2, RCV000479543.1, |