rs137852630

Orientation

minus

Stabilized

minus

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

Make rs137852630(A;C)

Make rs137852630(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52646774

Gene

KRT2

is a	snp
is	mentioned by
dbSNP	rs137852630
dbSNP (classic)	rs137852630
ClinGen	rs137852630
ebi	rs137852630
HLI	rs137852630
Exac	rs137852630
Gnomad	rs137852630
Varsome	rs137852630
LitVar	rs137852630
Map	rs137852630
PheGenI	rs137852630
Biobank	rs137852630
1000 genomes	rs137852630
hgdp	rs137852630
ensembl	rs137852630
geneview	rs137852630
scholar	rs137852630
google	rs137852630
pharmgkb	rs137852630
gwascentral	rs137852630
openSNP	rs137852630
23andMe	rs137852630
SNPshot	rs137852630
SNPdbe	rs137852630
MSV3d	rs137852630
GWAS Ctlg	rs137852630

Max Magnitude

0

OMIM	600194
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137852630(C;C)
Alt	rs137852630(C;C)
Reference	Rs137852630(A;A)
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.53040558T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009897.3, RCV000056529.1,