rs28928898

Orientation

minus

Stabilized

minus

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

Make rs28928898(C;C)

Make rs28928898(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41624247

Gene

KRT17

is a	snp
is	mentioned by
dbSNP	rs28928898
dbSNP (classic)	rs28928898
ClinGen	rs28928898
ebi	rs28928898
HLI	rs28928898
Exac	rs28928898
Gnomad	rs28928898
Varsome	rs28928898
LitVar	rs28928898
Map	rs28928898
PheGenI	rs28928898
Biobank	rs28928898
1000 genomes	rs28928898
hgdp	rs28928898
ensembl	rs28928898
geneview	rs28928898
scholar	rs28928898
google	rs28928898
pharmgkb	rs28928898
gwascentral	rs28928898
openSNP	rs28928898
23andMe	rs28928898
SNPshot	rs28928898
SNPdbe	rs28928898
MSV3d	rs28928898
GWAS Ctlg	rs28928898

Max Magnitude

0

OMIM	148069
Desc	PACHYONYCHIA CONGENITA, TYPE 2
Variant	0007
Related	also

ClinVar
Risk	Rs28928898(A;A) rs28928898(C;C)
Alt	Rs28928898(A;A) rs28928898(C;C)
Reference	Rs28928898(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.39780499A>G; NC_000017.10:g.39780499A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015696.27, RCV000056508.1, RCV000056507.1,