rs58072617

Orientation

minus

Stabilized

minus

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

Make rs58072617(C;C)

Make rs58072617(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52517702

Gene

KRT5

is a	snp
is	mentioned by
dbSNP	rs58072617
dbSNP (classic)	rs58072617
ClinGen	rs58072617
ebi	rs58072617
HLI	rs58072617
Exac	rs58072617
Gnomad	rs58072617
Varsome	rs58072617
LitVar	rs58072617
Map	rs58072617
PheGenI	rs58072617
Biobank	rs58072617
1000 genomes	rs58072617
hgdp	rs58072617
ensembl	rs58072617
geneview	rs58072617
scholar	rs58072617
google	rs58072617
pharmgkb	rs58072617
gwascentral	rs58072617
openSNP	rs58072617
23andMe	rs58072617
SNPshot	rs58072617
SNPdbe	rs58072617
MSV3d	rs58072617
GWAS Ctlg	rs58072617

Max Magnitude

0

OMIM	148040
Desc
Variant	0004
Related	also

ClinVar
Risk	rs58072617(A;A) rs58072617(C;C)
Alt	rs58072617(A;A) rs58072617(C;C)
Reference	Rs58072617(T;T)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex not provided
Variation	info
Gene	KRT5
CLNDBN	Epidermolysis bullosa simplex, Cockayne-Touraine type not provided
Reversed	1
HGVS	NC_000012.11:g.52911486A>G; NC_000012.11:g.52911486A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015747.25, RCV000056651.3, RCV000056650.1,