rs58163069

Orientation

minus

Stabilized

minus

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

Make rs58163069(C;C)

Make rs58163069(C;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52519778

Gene

KRT5

is a	snp
is	mentioned by
dbSNP	rs58163069
dbSNP (classic)	rs58163069
ClinGen	rs58163069
ebi	rs58163069
HLI	rs58163069
Exac	rs58163069
Gnomad	rs58163069
Varsome	rs58163069
LitVar	rs58163069
Map	rs58163069
PheGenI	rs58163069
Biobank	rs58163069
1000 genomes	rs58163069
hgdp	rs58163069
ensembl	rs58163069
geneview	rs58163069
scholar	rs58163069
google	rs58163069
pharmgkb	rs58163069
gwascentral	rs58163069
openSNP	rs58163069
23andMe	rs58163069
SNPshot	rs58163069
SNPdbe	rs58163069
MSV3d	rs58163069
GWAS Ctlg	rs58163069

Max Magnitude

0

OMIM	148040
Desc
Variant	0006
Related	also

ClinVar
Risk	rs58163069(C;C)
Alt	rs58163069(C;C)
Reference	Rs58163069(G;G)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex not provided
Variation	info
Gene	KRT5
CLNDBN	Epidermolysis bullosa simplex, Koebner type not provided
Reversed	1
HGVS	NC_000012.11:g.52913562C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015749.21, RCV000056607.1,