rs121912474

Orientation

minus

Stabilized

minus

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

Make rs121912474(C;C)

Make rs121912474(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52520277

Gene

KRT5

is a	snp
is	mentioned by
dbSNP	rs121912474
dbSNP (classic)	rs121912474
ClinGen	rs121912474
ebi	rs121912474
HLI	rs121912474
Exac	rs121912474
Gnomad	rs121912474
Varsome	rs121912474
LitVar	rs121912474
Map	rs121912474
PheGenI	rs121912474
Biobank	rs121912474
1000 genomes	rs121912474
hgdp	rs121912474
ensembl	rs121912474
geneview	rs121912474
scholar	rs121912474
google	rs121912474
pharmgkb	rs121912474
gwascentral	rs121912474
openSNP	rs121912474
23andMe	rs121912474
SNPshot	rs121912474
SNPdbe	rs121912474
MSV3d	rs121912474
GWAS Ctlg	rs121912474

Max Magnitude

0

OMIM	148040
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121912474(C;C)
Alt	rs121912474(C;C)
Reference	Rs121912474(T;T)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex
Variation	info
Gene	KRT5
CLNDBN	Epidermolysis bullosa simplex, Koebner type
Reversed	1
HGVS	NC_000012.11:g.52914061A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015752.25,