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rs62635294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs62635294(A;G)
Make rs62635294(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position52492678
GeneKRT6A, LOC107984511
is asnp
is mentioned by
dbSNPrs62635294
dbSNP (classic)rs62635294
ClinGenrs62635294
ebirs62635294
HLIrs62635294
Exacrs62635294
Gnomadrs62635294
Varsomers62635294
LitVarrs62635294
Maprs62635294
PheGenIrs62635294
Biobankrs62635294
1000 genomesrs62635294
hgdprs62635294
ensemblrs62635294
geneviewrs62635294
scholarrs62635294
googlers62635294
pharmgkbrs62635294
gwascentralrs62635294
openSNPrs62635294
23andMers62635294
SNPshotrs62635294
SNPdbers62635294
MSV3drs62635294
GWAS Ctlgrs62635294
Max Magnitude0
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,