rs57695159

Orientation

minus

Stabilized

minus

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

Make rs57695159(C;C)

Make rs57695159(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52679867

Gene

KRT1

is a	snp
is	mentioned by
dbSNP	rs57695159
dbSNP (classic)	rs57695159
ClinGen	rs57695159
ebi	rs57695159
HLI	rs57695159
Exac	rs57695159
Gnomad	rs57695159
Varsome	rs57695159
LitVar	rs57695159
Map	rs57695159
PheGenI	rs57695159
Biobank	rs57695159
1000 genomes	rs57695159
hgdp	rs57695159
ensembl	rs57695159
geneview	rs57695159
scholar	rs57695159
google	rs57695159
pharmgkb	rs57695159
gwascentral	rs57695159
openSNP	rs57695159
23andMe	rs57695159
SNPshot	rs57695159
SNPdbe	rs57695159
MSV3d	rs57695159
GWAS Ctlg	rs57695159

Max Magnitude

0

OMIM	139350
Desc
Variant	0002
Related	also

ClinVar
Risk	rs57695159(C;C)
Alt	rs57695159(C;C)
Reference	Rs57695159(T;T)
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.53073651A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000017259.26, RCV000057083.1,