rs28928897

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs28928897(A;A)

Make rs28928897(A;C)

Make rs28928897(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41624229

Gene

KRT17

is a	snp
is	mentioned by
dbSNP	rs28928897
dbSNP (classic)	rs28928897
ClinGen	rs28928897
ebi	rs28928897
HLI	rs28928897
Exac	rs28928897
Gnomad	rs28928897
Varsome	rs28928897
LitVar	rs28928897
Map	rs28928897
PheGenI	rs28928897
Biobank	rs28928897
1000 genomes	rs28928897
hgdp	rs28928897
ensembl	rs28928897
geneview	rs28928897
scholar	rs28928897
google	rs28928897
pharmgkb	rs28928897
gwascentral	rs28928897
openSNP	rs28928897
23andMe	rs28928897
SNPshot	rs28928897
SNPdbe	rs28928897
MSV3d	rs28928897
GWAS Ctlg	rs28928897

Max Magnitude

0

OMIM	148069
Desc	STEATOCYSTOMA MULTIPLEX
Variant	0005
Related	also

OMIM	148069
Desc	PACHYONYCHIA CONGENITA, TYPE 2
Variant	0009
Related	also

ClinVar
Risk	rs28928897(A;A) rs28928897(C;C)
Alt	rs28928897(A;A) rs28928897(C;C)
Reference	Rs28928897(G;G)
Significance	Pathogenic
Disease	Pachyonychia congenita type 2 not provided Steatocystoma multiplex
Variation	info
Gene	KRT17
CLNDBN	Pachyonychia congenita type 2 not provided Steatocystoma multiplex
Reversed	1
HGVS	NC_000017.10:g.39780481C>G; NC_000017.10:g.39780481C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015698.23, RCV000056516.1, RCV000015692.26, RCV000056515.1, RCV000114414.2,