rs28933089

Orientation

minus

Stabilized

minus

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

Make rs28933089(C;C)

Make rs28933089(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41624214

Gene

KRT17

is a	snp
is	mentioned by
dbSNP	rs28933089
dbSNP (classic)	rs28933089
ClinGen	rs28933089
ebi	rs28933089
HLI	rs28933089
Exac	rs28933089
Gnomad	rs28933089
Varsome	rs28933089
LitVar	rs28933089
Map	rs28933089
PheGenI	rs28933089
Biobank	rs28933089
1000 genomes	rs28933089
hgdp	rs28933089
ensembl	rs28933089
geneview	rs28933089
scholar	rs28933089
google	rs28933089
pharmgkb	rs28933089
gwascentral	rs28933089
openSNP	rs28933089
23andMe	rs28933089
SNPshot	rs28933089
SNPdbe	rs28933089
MSV3d	rs28933089
GWAS Ctlg	rs28933089

Max Magnitude

0

OMIM	148069
Desc	PACHYONYCHIA CONGENITA, TYPE 2
Variant	0013
Related	also

ClinVar
Risk	rs28933089(C;C)
Alt	rs28933089(C;C)
Reference	Rs28933089(T;T)
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.39780466A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015702.27, RCV000056523.2,