rs28933088

Orientation

minus

Stabilized

minus

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

Make rs28933088(G;G)

Make rs28933088(G;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41624218

Gene

KRT17

is a	snp
is	mentioned by
dbSNP	rs28933088
dbSNP (classic)	rs28933088
ClinGen	rs28933088
ebi	rs28933088
HLI	rs28933088
Exac	rs28933088
Gnomad	rs28933088
Varsome	rs28933088
LitVar	rs28933088
Map	rs28933088
PheGenI	rs28933088
Biobank	rs28933088
1000 genomes	rs28933088
hgdp	rs28933088
ensembl	rs28933088
geneview	rs28933088
scholar	rs28933088
google	rs28933088
pharmgkb	rs28933088
gwascentral	rs28933088
openSNP	rs28933088
23andMe	rs28933088
SNPshot	rs28933088
SNPdbe	rs28933088
MSV3d	rs28933088
GWAS Ctlg	rs28933088

Max Magnitude

0

OMIM	148069
Desc	PACHYONYCHIA CONGENITA, TYPE 2
Variant	0003
Related	also

ClinVar
Risk	rs28933088(G;G)
Alt	rs28933088(G;G)
Reference	Rs28933088(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.39780470A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015690.22, RCV000056521.1,