rs58380626

Orientation

minus

Stabilized

minus

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

Make rs58380626(C;C)

Make rs58380626(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41583266

Gene

KRT14

is a	snp
is	mentioned by
dbSNP	rs58380626
dbSNP (classic)	rs58380626
ClinGen	rs58380626
ebi	rs58380626
HLI	rs58380626
Exac	rs58380626
Gnomad	rs58380626
Varsome	rs58380626
LitVar	rs58380626
Map	rs58380626
PheGenI	rs58380626
Biobank	rs58380626
1000 genomes	rs58380626
hgdp	rs58380626
ensembl	rs58380626
geneview	rs58380626
scholar	rs58380626
google	rs58380626
pharmgkb	rs58380626
gwascentral	rs58380626
openSNP	rs58380626
23andMe	rs58380626
SNPshot	rs58380626
SNPdbe	rs58380626
MSV3d	rs58380626
GWAS Ctlg	rs58380626

Max Magnitude

0

OMIM	148066
Desc
Variant	0011
Related	also

ClinVar
Risk	rs58380626(C;C)
Alt	rs58380626(C;C)
Reference	Rs58380626(T;T)
Significance	Pathogenic
Disease	Epidermolysis bullosa herpetiformis not provided
Variation	info
Gene	KRT14
CLNDBN	Epidermolysis bullosa herpetiformis, Dowling-Meara not provided
Reversed	1
HGVS	NC_000017.10:g.39739518A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015726.22, RCV000056685.2,