rs57959072

Orientation

minus

Stabilized

minus

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

Make rs57959072(G;G)

Make rs57959072(G;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52679885

Gene

KRT1

is a	snp
is	mentioned by
dbSNP	rs57959072
dbSNP (classic)	rs57959072
ClinGen	rs57959072
ebi	rs57959072
HLI	rs57959072
Exac	rs57959072
Gnomad	rs57959072
Varsome	rs57959072
LitVar	rs57959072
Map	rs57959072
PheGenI	rs57959072
Biobank	rs57959072
1000 genomes	rs57959072
hgdp	rs57959072
ensembl	rs57959072
geneview	rs57959072
scholar	rs57959072
google	rs57959072
pharmgkb	rs57959072
gwascentral	rs57959072
openSNP	rs57959072
23andMe	rs57959072
SNPshot	rs57959072
SNPdbe	rs57959072
MSV3d	rs57959072
GWAS Ctlg	rs57959072

Max Magnitude

0

OMIM	139350
Desc
Variant	0007
Related	also

ClinVar
Risk	rs57959072(A;A) rs57959072(G;G)
Alt	rs57959072(A;A) rs57959072(G;G)
Reference	Rs57959072(T;T)
Significance	Pathogenic
Disease	not provided Bullous ichthyosiform erythroderma
Variation	info
Gene	KRT1
CLNDBN	not provided Bullous ichthyosiform erythroderma
Reversed	1
HGVS	NC_000012.11:g.53073669A>C; NC_000012.11:g.53073669A>T
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000057082.1, RCV000017264.23, RCV000057081.1,