rs58730926

Orientation

minus

Stabilized

minus

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

Make rs58730926(C;T)

Make rs58730926(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41624230

Gene

KRT17

is a	snp
is	mentioned by
dbSNP	rs58730926
dbSNP (classic)	rs58730926
ClinGen	rs58730926
ebi	rs58730926
HLI	rs58730926
Exac	rs58730926
Gnomad	rs58730926
Varsome	rs58730926
LitVar	rs58730926
Map	rs58730926
PheGenI	rs58730926
Biobank	rs58730926
1000 genomes	rs58730926
hgdp	rs58730926
ensembl	rs58730926
geneview	rs58730926
scholar	rs58730926
google	rs58730926
pharmgkb	rs58730926
gwascentral	rs58730926
openSNP	rs58730926
23andMe	rs58730926
SNPshot	rs58730926
SNPdbe	rs58730926
MSV3d	rs58730926
GWAS Ctlg	rs58730926

Max Magnitude

0

OMIM	148069
Desc
Variant	0006
Related	also

ClinVar
Risk	rs58730926(T;T)
Alt	rs58730926(T;T)
Reference	Rs58730926(C;C)
Significance	Pathogenic
Disease	Steatocystoma multiplex not provided Pachyonychia congenita type 2
Variation	info
Gene	KRT17
CLNDBN	Steatocystoma multiplex not provided Pachyonychia congenita type 2
Reversed	1
HGVS	NC_000017.10:g.39780482G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015694.27, RCV000056513.2, RCV000114415.3,