rs60723330

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs60723330(A;G)

Make rs60723330(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41612315

Gene

KRT16

is a	snp
is	mentioned by
dbSNP	rs60723330
dbSNP (classic)	rs60723330
ClinGen	rs60723330
ebi	rs60723330
HLI	rs60723330
Exac	rs60723330
Gnomad	rs60723330
Varsome	rs60723330
LitVar	rs60723330
Map	rs60723330
PheGenI	rs60723330
Biobank	rs60723330
1000 genomes	rs60723330
hgdp	rs60723330
ensembl	rs60723330
geneview	rs60723330
scholar	rs60723330
google	rs60723330
pharmgkb	rs60723330
gwascentral	rs60723330
openSNP	rs60723330
23andMe	rs60723330
SNPshot	rs60723330
SNPdbe	rs60723330
MSV3d	rs60723330
GWAS Ctlg	rs60723330

Max Magnitude

0

OMIM	148067
Desc
Variant	0003
Related	also

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 UniProtKB (protein)
CLNACC	RCV000015706.27, RCV000057037.2, RCV000144080.3,