rs57364972

Orientation

minus

Stabilized

minus

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

Make rs57364972(A;A)

Make rs57364972(A;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41583253

Gene

KRT14

is a	snp
is	mentioned by
dbSNP	rs57364972
dbSNP (classic)	rs57364972
ClinGen	rs57364972
ebi	rs57364972
HLI	rs57364972
Exac	rs57364972
Gnomad	rs57364972
Varsome	rs57364972
LitVar	rs57364972
Map	rs57364972
PheGenI	rs57364972
Biobank	rs57364972
1000 genomes	rs57364972
hgdp	rs57364972
ensembl	rs57364972
geneview	rs57364972
scholar	rs57364972
google	rs57364972
pharmgkb	rs57364972
gwascentral	rs57364972
openSNP	rs57364972
23andMe	rs57364972
SNPshot	rs57364972
SNPdbe	rs57364972
MSV3d	rs57364972
GWAS Ctlg	rs57364972

Max Magnitude

0

OMIM	148066
Desc
Variant	0012
Related	also

ClinVar
Risk	rs57364972(A;A)
Alt	rs57364972(A;A)
Reference	Rs57364972(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.39739505A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015727.22, RCV000056691.1,