rs121912476

Orientation

minus

Stabilized

minus

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

Make rs121912476(A;A)

Make rs121912476(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52516824

Gene

KRT5

is a	snp
is	mentioned by
dbSNP	rs121912476
dbSNP (classic)	rs121912476
ClinGen	rs121912476
ebi	rs121912476
HLI	rs121912476
Exac	rs121912476
Gnomad	rs121912476
Varsome	rs121912476
LitVar	rs121912476
Map	rs121912476
PheGenI	rs121912476
Biobank	rs121912476
1000 genomes	rs121912476
hgdp	rs121912476
ensembl	rs121912476
geneview	rs121912476
scholar	rs121912476
google	rs121912476
pharmgkb	rs121912476
gwascentral	rs121912476
openSNP	rs121912476
23andMe	rs121912476
SNPshot	rs121912476
SNPdbe	rs121912476
MSV3d	rs121912476
GWAS Ctlg	rs121912476

Max Magnitude

0

OMIM	148040
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121912476(A;A)
Alt	rs121912476(A;A)
Reference	Rs121912476(G;G)
Significance	Pathogenic
Disease	Epidermolysis bullosa simplex not provided
Variation	info
Gene	KRT5
CLNDBN	Epidermolysis bullosa simplex, autosomal recessive not provided
Reversed	1
HGVS	NC_000012.11:g.52910608C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015765.27, RCV000056546.1,