rs57890479

Orientation

minus

Stabilized

minus

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

Make rs57890479(C;T)

Make rs57890479(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52519774

Gene

KRT5

is a	snp
is	mentioned by
dbSNP	rs57890479
dbSNP (classic)	rs57890479
ClinGen	rs57890479
ebi	rs57890479
HLI	rs57890479
Exac	rs57890479
Gnomad	rs57890479
Varsome	rs57890479
LitVar	rs57890479
Map	rs57890479
PheGenI	rs57890479
Biobank	rs57890479
1000 genomes	rs57890479
hgdp	rs57890479
ensembl	rs57890479
geneview	rs57890479
scholar	rs57890479
google	rs57890479
pharmgkb	rs57890479
gwascentral	rs57890479
openSNP	rs57890479
23andMe	rs57890479
SNPshot	rs57890479
SNPdbe	rs57890479
MSV3d	rs57890479
GWAS Ctlg	rs57890479

Max Magnitude

0

OMIM	148040
Desc
Variant	0008
Related	also

ClinVar
Risk	rs57890479(T;T)
Alt	rs57890479(T;T)
Reference	Rs57890479(C;C)
Significance	Pathogenic
Disease	Epidermolysis bullosa herpetiformis not provided
Variation	info
Gene	KRT5
CLNDBN	Epidermolysis bullosa herpetiformis, Dowling-Meara not provided
Reversed	1
HGVS	NC_000012.11:g.52913558G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015751.25, RCV000056608.1,