rs56829062

Orientation

minus

Stabilized

minus

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

Make rs56829062(A;A)

Make rs56829062(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52646783

Gene

KRT2

is a	snp
is	mentioned by
dbSNP	rs56829062
dbSNP (classic)	rs56829062
ClinGen	rs56829062
ebi	rs56829062
HLI	rs56829062
Exac	rs56829062
Gnomad	rs56829062
Varsome	rs56829062
LitVar	rs56829062
Map	rs56829062
PheGenI	rs56829062
Biobank	rs56829062
1000 genomes	rs56829062
hgdp	rs56829062
ensembl	rs56829062
geneview	rs56829062
scholar	rs56829062
google	rs56829062
pharmgkb	rs56829062
gwascentral	rs56829062
openSNP	rs56829062
23andMe	rs56829062
SNPshot	rs56829062
SNPdbe	rs56829062
MSV3d	rs56829062
GWAS Ctlg	rs56829062

Max Magnitude

0

OMIM	600194
Desc
Variant	0006
Related	also

ClinVar
Risk	rs56829062(A;A)
Alt	rs56829062(A;A)
Reference	Rs56829062(G;G)
Significance	Pathogenic
Disease	Ichthyosis bullosa of Siemens not provided
Variation	info
Gene	KRT2
CLNDBN	Ichthyosis bullosa of Siemens not provided
Reversed	1
HGVS	NC_000012.11:g.53040567C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009899.5, RCV000056527.1,