rs137852629

Orientation

minus

Stabilized

minus

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

Make rs137852629(A;A)

Make rs137852629(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

52646750

Gene

KRT2

is a	snp
is	mentioned by
dbSNP	rs137852629
dbSNP (classic)	rs137852629
ClinGen	rs137852629
ebi	rs137852629
HLI	rs137852629
Exac	rs137852629
Gnomad	rs137852629
Varsome	rs137852629
LitVar	rs137852629
Map	rs137852629
PheGenI	rs137852629
Biobank	rs137852629
1000 genomes	rs137852629
hgdp	rs137852629
ensembl	rs137852629
geneview	rs137852629
scholar	rs137852629
google	rs137852629
pharmgkb	rs137852629
gwascentral	rs137852629
openSNP	rs137852629
23andMe	rs137852629
SNPshot	rs137852629
SNPdbe	rs137852629
MSV3d	rs137852629
GWAS Ctlg	rs137852629

Max Magnitude

0

OMIM	600194
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852629(A;A)
Alt	rs137852629(A;A)
Reference	Rs137852629(G;G)
Significance	Pathogenic
Disease	Ichthyosis bullosa of Siemens Ichthyosis exfoliativa not provided
Variation	info
Gene	KRT2
CLNDBN	Ichthyosis bullosa of Siemens Ichthyosis exfoliativa not provided
Reversed	1
HGVS	NC_000012.11:g.53040534C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009894.3, RCV000009895.3, RCV000056532.1,