rs57510142

Orientation

minus

Stabilized

minus

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

Make rs57510142(A;C)

Make rs57510142(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52651601

Gene

KRT2

is a	snp
is	mentioned by
dbSNP	rs57510142
dbSNP (classic)	rs57510142
ClinGen	rs57510142
ebi	rs57510142
HLI	rs57510142
Exac	rs57510142
Gnomad	rs57510142
Varsome	rs57510142
LitVar	rs57510142
Map	rs57510142
PheGenI	rs57510142
Biobank	rs57510142
1000 genomes	rs57510142
hgdp	rs57510142
ensembl	rs57510142
geneview	rs57510142
scholar	rs57510142
google	rs57510142
pharmgkb	rs57510142
gwascentral	rs57510142
openSNP	rs57510142
23andMe	rs57510142
SNPshot	rs57510142
SNPdbe	rs57510142
MSV3d	rs57510142
GWAS Ctlg	rs57510142

Max Magnitude

0

OMIM	600194
Desc
Variant	0003
Related	also

ClinVar
Risk	rs57510142(C;C) rs57510142(T;T)
Alt	rs57510142(C;C) rs57510142(T;T)
Reference	Rs57510142(A;A)
Significance	Pathogenic
Disease	not provided Ichthyosis bullosa of Siemens
Variation	info
Gene	KRT2
CLNDBN	not provided Ichthyosis bullosa of Siemens
Reversed	1
HGVS	NC_000012.11:g.53045385T>A; NC_000012.11:g.53045385T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000056536.1, RCV000009896.2,