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rs60944949

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs60944949(C;C)
Make rs60944949(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position41612294
GeneKRT16
is asnp
is mentioned by
dbSNPrs60944949
ebirs60944949
HLIrs60944949
Exacrs60944949
Varsomers60944949
Maprs60944949
PheGenIrs60944949
hapmaprs60944949
1000 genomesrs60944949
hgdprs60944949
ensemblrs60944949
gopubmedrs60944949
geneviewrs60944949
scholarrs60944949
googlers60944949
pharmgkbrs60944949
gwascentralrs60944949
openSNPrs60944949
23andMers60944949
23andMe allrs60944949
SNP Nexus

SNPshotrs60944949
SNPdbers60944949
MSV3drs60944949
GWAS Ctlgrs60944949
Max Magnitude0
OMIM148067
Desc
Variant0001
Relatedalso


ClinVar
Risk rs60944949(C;C)
Alt rs60944949(C;C)
Reference rs60944949(T;T)
Significance Pathogenic
Disease Pachyonychia congenita not provided
Variation info
Gene KRT16
CLNDBN Pachyonychia congenita, type 1 not provided
Reversed 1
HGVS NC_000017.10:g.39768546A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015704.23, RCV000057042.1,