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rs59977263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs59977263(A;A)
Make rs59977263(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position41624206
GeneKRT17
is asnp
is mentioned by
dbSNPrs59977263
dbSNP (classic)rs59977263
ClinGenrs59977263
ebirs59977263
HLIrs59977263
Exacrs59977263
Gnomadrs59977263
Varsomers59977263
LitVarrs59977263
Maprs59977263
PheGenIrs59977263
Biobankrs59977263
1000 genomesrs59977263
hgdprs59977263
ensemblrs59977263
geneviewrs59977263
scholarrs59977263
googlers59977263
pharmgkbrs59977263
gwascentralrs59977263
openSNPrs59977263
23andMers59977263
SNPshotrs59977263
SNPdbers59977263
MSV3drs59977263
GWAS Ctlgrs59977263
Max Magnitude0
OMIM148069
Desc
Variant0014
Relatedalso


ClinVar
Risk rs59977263(A;A)
Alt rs59977263(A;A)
Reference Rs59977263(G;G)
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.39780458C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015703.23, RCV000056524.1,