rs57358989

Orientation

minus

Stabilized

minus

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

Make rs57358989(A;A)

Make rs57358989(A;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41586478

Gene

KRT14

is a	snp
is	mentioned by
dbSNP	rs57358989
dbSNP (classic)	rs57358989
ClinGen	rs57358989
ebi	rs57358989
HLI	rs57358989
Exac	rs57358989
Gnomad	rs57358989
Varsome	rs57358989
LitVar	rs57358989
Map	rs57358989
PheGenI	rs57358989
Biobank	rs57358989
1000 genomes	rs57358989
hgdp	rs57358989
ensembl	rs57358989
geneview	rs57358989
scholar	rs57358989
google	rs57358989
pharmgkb	rs57358989
gwascentral	rs57358989
openSNP	rs57358989
23andMe	rs57358989
SNPshot	rs57358989
SNPdbe	rs57358989
MSV3d	rs57358989
GWAS Ctlg	rs57358989

Max Magnitude

0

OMIM	148066
Desc
Variant	0010
Related	also

ClinVar
Risk	rs57358989(A;A)
Alt	rs57358989(A;A)
Reference	Rs57358989(G;G)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex Epidermolysis bullosa simplex not provided
Variation	info
Gene	KRT14
CLNDBN	Epidermolysis bullosa simplex, Cockayne-Touraine type Epidermolysis bullosa simplex, autosomal recessive not provided
Reversed	1
HGVS	NC_000017.10:g.39742730C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015724.26, RCV000056256.26, RCV000056709.1,