rs57599352

Orientation

minus

Stabilized

minus

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

Make rs57599352(C;C)

Make rs57599352(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52516688

Gene

KRT5

is a	snp
is	mentioned by
dbSNP	rs57599352
dbSNP (classic)	rs57599352
ClinGen	rs57599352
ebi	rs57599352
HLI	rs57599352
Exac	rs57599352
Gnomad	rs57599352
Varsome	rs57599352
LitVar	rs57599352
Map	rs57599352
PheGenI	rs57599352
Biobank	rs57599352
1000 genomes	rs57599352
hgdp	rs57599352
ensembl	rs57599352
geneview	rs57599352
scholar	rs57599352
google	rs57599352
pharmgkb	rs57599352
gwascentral	rs57599352
openSNP	rs57599352
23andMe	rs57599352
SNPshot	rs57599352
SNPdbe	rs57599352
MSV3d	rs57599352
GWAS Ctlg	rs57599352

Max Magnitude

0

OMIM	148040
Desc
Variant	0002
Related	also

ClinVar
Risk	rs57599352(C;C)
Alt	rs57599352(C;C)
Reference	Rs57599352(T;T)
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.52910472A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015745.25, RCV000056553.1,