rs28940896

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(G;G)	0

Make rs28940896(C;T)

Make rs28940896(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41571515

Gene

KRT9

is a	snp
is	mentioned by
dbSNP	rs28940896
dbSNP (classic)	rs28940896
ClinGen	rs28940896
ebi	rs28940896
HLI	rs28940896
Exac	rs28940896
Gnomad	rs28940896
Varsome	rs28940896
LitVar	rs28940896
Map	rs28940896
PheGenI	rs28940896
Biobank	rs28940896
1000 genomes	rs28940896
hgdp	rs28940896
ensembl	rs28940896
geneview	rs28940896
scholar	rs28940896
google	rs28940896
pharmgkb	rs28940896
gwascentral	rs28940896
openSNP	rs28940896
23andMe	rs28940896
SNPshot	rs28940896
SNPdbe	rs28940896
MSV3d	rs28940896
GWAS Ctlg	rs28940896

Max Magnitude

0

OMIM	607606
Desc	PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS
Variant	0012
Related	also

OMIM	607606
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs28940896(G;G) rs28940896(T;T)
Alt	Rs28940896(G;G) rs28940896(T;T)
Reference	Rs28940896(C;C)
Significance	Pathogenic
Disease	Palmoplantar keratoderma not provided Epidermolytic palmoplantar keratoderma
Variation	info
Gene	KRT9
CLNDBN	Palmoplantar keratoderma, epidermolytic, with knuckle pads not provided Epidermolytic palmoplantar keratoderma
Reversed	1
HGVS	NC_000017.10:g.39727767G>A; NC_000017.10:g.39727767G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003144.2, RCV000056458.1, RCV000003141.2, RCV000056457.1,