rs58330629

Orientation

minus

Stabilized

minus

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

Make rs58330629(A;A)

Make rs58330629(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41586461

Gene

KRT14

is a	snp
is	mentioned by
dbSNP	rs58330629
dbSNP (classic)	rs58330629
ClinGen	rs58330629
ebi	rs58330629
HLI	rs58330629
Exac	rs58330629
Gnomad	rs58330629
Varsome	rs58330629
LitVar	rs58330629
Map	rs58330629
PheGenI	rs58330629
Biobank	rs58330629
1000 genomes	rs58330629
hgdp	rs58330629
ensembl	rs58330629
geneview	rs58330629
scholar	rs58330629
google	rs58330629
pharmgkb	rs58330629
gwascentral	rs58330629
openSNP	rs58330629
23andMe	rs58330629
SNPshot	rs58330629
SNPdbe	rs58330629
MSV3d	rs58330629
GWAS Ctlg	rs58330629

Max Magnitude

0

OMIM	148066
Desc
Variant	0003
Related	also

ClinVar
Risk	rs58330629(A;A) rs58330629(C;C) rs58330629(T;T)
Alt	rs58330629(A;A) rs58330629(C;C) rs58330629(T;T)
Reference	Rs58330629(G;G)
Significance	Pathogenic
Disease	not provided Epidermolysis bullosa herpetiformis
Variation	info
Gene	KRT14
CLNDBN	not provided Epidermolysis bullosa herpetiformis, Dowling-Meara
Reversed	1
HGVS	NC_000017.10:g.39742713C>A; NC_000017.10:g.39742713C>G; NC_000017.10:g.39742713C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000056720.1, RCV000056719.1, RCV000015717.26, RCV000056718.3,