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rs60723330

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs60723330(A;G)
Make rs60723330(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position41612315
GeneKRT16
is asnp
is mentioned by
dbSNPrs60723330
ebirs60723330
HLIrs60723330
Exacrs60723330
Varsomers60723330
Maprs60723330
PheGenIrs60723330
hapmaprs60723330
1000 genomesrs60723330
hgdprs60723330
ensemblrs60723330
gopubmedrs60723330
geneviewrs60723330
scholarrs60723330
googlers60723330
pharmgkbrs60723330
gwascentralrs60723330
openSNPrs60723330
23andMers60723330
23andMe allrs60723330
SNP Nexus

SNPshotrs60723330
SNPdbers60723330
MSV3drs60723330
GWAS Ctlgrs60723330
Max Magnitude0
OMIM148067
Desc
Variant0003
Relatedalso


ClinVar
Risk rs60723330(G;G)
Alt rs60723330(G;G)
Reference rs60723330(A;A)
Significance Pathogenic
Disease Palmoplantar keratoderma not provided Pachyonychia congenita
Variation info
Gene KRT16
CLNDBN Palmoplantar keratoderma, nonepidermolytic, focal not provided Pachyonychia congenita, type 1
Reversed 1
HGVS NC_000017.10:g.39768567T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015706.27, RCV000057037.1, RCV000144080.3,