rs58420087

Orientation

minus

Stabilized

minus

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

Make rs58420087(A;G)

Make rs58420087(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52676305

Gene

KRT1

is a	snp
is	mentioned by
dbSNP	rs58420087
dbSNP (classic)	rs58420087
ClinGen	rs58420087
ebi	rs58420087
HLI	rs58420087
Exac	rs58420087
Gnomad	rs58420087
Varsome	rs58420087
LitVar	rs58420087
Map	rs58420087
PheGenI	rs58420087
Biobank	rs58420087
1000 genomes	rs58420087
hgdp	rs58420087
ensembl	rs58420087
geneview	rs58420087
scholar	rs58420087
google	rs58420087
pharmgkb	rs58420087
gwascentral	rs58420087
openSNP	rs58420087
23andMe	rs58420087
SNPshot	rs58420087
SNPdbe	rs58420087
MSV3d	rs58420087
GWAS Ctlg	rs58420087

Max Magnitude

0

OMIM	139350
Desc
Variant	0003
Related	also

ClinVar
Risk	rs58420087(G;G)
Alt	rs58420087(G;G)
Reference	Rs58420087(A;A)
Significance	Pathogenic
Disease	Bullous ichthyosiform erythroderma not provided
Variation	info
Gene	KRT1
CLNDBN	Bullous ichthyosiform erythroderma not provided
Reversed	1
HGVS	NC_000012.11:g.53070089T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017260.23, RCV000057065.1,