rs56707768

Orientation

minus

Stabilized

minus

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

Make rs56707768(A;G)

Make rs56707768(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41571511

Gene

KRT9

is a	snp
is	mentioned by
dbSNP	rs56707768
dbSNP (classic)	rs56707768
ClinGen	rs56707768
ebi	rs56707768
HLI	rs56707768
Exac	rs56707768
Gnomad	rs56707768
Varsome	rs56707768
LitVar	rs56707768
Map	rs56707768
PheGenI	rs56707768
Biobank	rs56707768
1000 genomes	rs56707768
hgdp	rs56707768
ensembl	rs56707768
geneview	rs56707768
scholar	rs56707768
google	rs56707768
pharmgkb	rs56707768
gwascentral	rs56707768
openSNP	rs56707768
23andMe	rs56707768
SNPshot	rs56707768
SNPdbe	rs56707768
MSV3d	rs56707768
GWAS Ctlg	rs56707768

Max Magnitude

0

OMIM	607606
Desc
Variant	0007
Related	also

OMIM	607606
Desc
Variant	0013
Related	also

ClinVar
Risk	rs56707768(G;G) rs56707768(T;T)
Alt	rs56707768(G;G) rs56707768(T;T)
Reference	Rs56707768(A;A)
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.39727763T>A; NC_000017.10:g.39727763T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003145.2, RCV000056462.1, RCV000003139.2, RCV000056461.2,