rs61348633

Orientation

minus

Stabilized

minus

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

Make rs61348633(A;G)

Make rs61348633(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52516652

Gene

KRT5

is a	snp
is	mentioned by
dbSNP	rs61348633
dbSNP (classic)	rs61348633
ClinGen	rs61348633
ebi	rs61348633
HLI	rs61348633
Exac	rs61348633
Gnomad	rs61348633
Varsome	rs61348633
LitVar	rs61348633
Map	rs61348633
PheGenI	rs61348633
Biobank	rs61348633
1000 genomes	rs61348633
hgdp	rs61348633
ensembl	rs61348633
geneview	rs61348633
scholar	rs61348633
google	rs61348633
pharmgkb	rs61348633
gwascentral	rs61348633
openSNP	rs61348633
23andMe	rs61348633
SNPshot	rs61348633
SNPdbe	rs61348633
MSV3d	rs61348633
GWAS Ctlg	rs61348633

Max Magnitude

0

OMIM	148040
Desc
Variant	0001
Related	also

ClinVar
Risk	rs61348633(G;G)
Alt	rs61348633(G;G)
Reference	Rs61348633(A;A)
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.52910436T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015744.25, RCV000056562.1,