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rs59151893

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs59151893(A;G)
Make rs59151893(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position41624235
GeneKRT17
is asnp
is mentioned by
dbSNPrs59151893
dbSNP (classic)rs59151893
ClinGenrs59151893
ebirs59151893
HLIrs59151893
Exacrs59151893
Gnomadrs59151893
Varsomers59151893
LitVarrs59151893
Maprs59151893
PheGenIrs59151893
Biobankrs59151893
1000 genomesrs59151893
hgdprs59151893
ensemblrs59151893
geneviewrs59151893
scholarrs59151893
googlers59151893
pharmgkbrs59151893
gwascentralrs59151893
openSNPrs59151893
23andMers59151893
SNPshotrs59151893
SNPdbers59151893
MSV3drs59151893
GWAS Ctlgrs59151893
Max Magnitude0
OMIM148069
Desc
Variant0002
Relatedalso


ClinVar
Risk rs59151893(G;G)
Alt rs59151893(G;G)
Reference Rs59151893(A;A)
Significance Pathogenic
Disease Pachyonychia congenita type 2 not provided
Variation info
Gene KRT17
CLNDBN Pachyonychia congenita type 2 not provided
Reversed 1
HGVS NC_000017.10:g.39780487T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015689.27, RCV000056512.2,