rs57121345

Orientation

minus

Stabilized

minus

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

Make rs57121345(A;C)

Make rs57121345(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

41586404

Gene

KRT14

is a	snp
is	mentioned by
dbSNP	rs57121345
dbSNP (classic)	rs57121345
ClinGen	rs57121345
ebi	rs57121345
HLI	rs57121345
Exac	rs57121345
Gnomad	rs57121345
Varsome	rs57121345
LitVar	rs57121345
Map	rs57121345
PheGenI	rs57121345
Biobank	rs57121345
1000 genomes	rs57121345
hgdp	rs57121345
ensembl	rs57121345
geneview	rs57121345
scholar	rs57121345
google	rs57121345
pharmgkb	rs57121345
gwascentral	rs57121345
openSNP	rs57121345
23andMe	rs57121345
SNPshot	rs57121345
SNPdbe	rs57121345
MSV3d	rs57121345
GWAS Ctlg	rs57121345

Max Magnitude

0

OMIM	148066
Desc
Variant	0004
Related	also

ClinVar
Risk	rs57121345(C;C)
Alt	rs57121345(C;C)
Reference	Rs57121345(A;A)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex not provided
Variation	info
Gene	KRT14
CLNDBN	Epidermolysis bullosa simplex, autosomal recessive not provided
Reversed	1
HGVS	NC_000017.10:g.39742656T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015718.26, RCV000056739.1,