rs60715293

Orientation

minus

Stabilized

minus

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

Make rs60715293(C;C)

Make rs60715293(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52519756

Gene

KRT5

is a	snp
is	mentioned by
dbSNP	rs60715293
dbSNP (classic)	rs60715293
ClinGen	rs60715293
ebi	rs60715293
HLI	rs60715293
Exac	rs60715293
Gnomad	rs60715293
Varsome	rs60715293
LitVar	rs60715293
Map	rs60715293
PheGenI	rs60715293
Biobank	rs60715293
1000 genomes	rs60715293
hgdp	rs60715293
ensembl	rs60715293
geneview	rs60715293
scholar	rs60715293
google	rs60715293
pharmgkb	rs60715293
gwascentral	rs60715293
openSNP	rs60715293
23andMe	rs60715293
SNPshot	rs60715293
SNPdbe	rs60715293
MSV3d	rs60715293
GWAS Ctlg	rs60715293

Max Magnitude

0

OMIM	148040
Desc
Variant	0012
Related	also

ClinVar
Risk	rs60715293(C;C)
Alt	rs60715293(C;C)
Reference	Rs60715293(T;T)
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.52913540A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015756.25, RCV000056615.1,