rs28928899

Orientation

minus

Stabilized

minus

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

Make rs28928899(A;A)

Make rs28928899(A;C)

Make rs28928899(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41624226

Gene

KRT17

is a	snp
is	mentioned by
dbSNP	rs28928899
dbSNP (classic)	rs28928899
ClinGen	rs28928899
ebi	rs28928899
HLI	rs28928899
Exac	rs28928899
Gnomad	rs28928899
Varsome	rs28928899
LitVar	rs28928899
Map	rs28928899
PheGenI	rs28928899
Biobank	rs28928899
1000 genomes	rs28928899
hgdp	rs28928899
ensembl	rs28928899
geneview	rs28928899
scholar	rs28928899
google	rs28928899
pharmgkb	rs28928899
gwascentral	rs28928899
openSNP	rs28928899
23andMe	rs28928899
SNPshot	rs28928899
SNPdbe	rs28928899
MSV3d	rs28928899
GWAS Ctlg	rs28928899

Max Magnitude

0

OMIM	148069
Desc	PACHYONYCHIA CONGENITA, TYPE 2
Variant	0010
Related	also

OMIM	148069
Desc
Variant	0011
Related	also

ClinVar
Risk	rs28928899(A;A) rs28928899(C;C)
Alt	rs28928899(A;A) rs28928899(C;C)
Reference	Rs28928899(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.39780478A>G; NC_000017.10:g.39780478A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015700.27, RCV000056518.2, RCV000015699.23, RCV000056517.1,