rs137852931

Orientation

plus

Stabilized

plus

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

Make rs137852931(A;A)

Make rs137852931(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

130209734

Gene

ST14

is a	snp
is	mentioned by
dbSNP	rs137852931
dbSNP (classic)	rs137852931
ClinGen	rs137852931
ebi	rs137852931
HLI	rs137852931
Exac	rs137852931
Gnomad	rs137852931
Varsome	rs137852931
LitVar	rs137852931
Map	rs137852931
PheGenI	rs137852931
Biobank	rs137852931
1000 genomes	rs137852931
hgdp	rs137852931
ensembl	rs137852931
geneview	rs137852931
scholar	rs137852931
google	rs137852931
pharmgkb	rs137852931
gwascentral	rs137852931
openSNP	rs137852931
23andMe	rs137852931
SNPshot	rs137852931
SNPdbe	rs137852931
MSV3d	rs137852931
GWAS Ctlg	rs137852931

Max Magnitude

0

OMIM	606797
Desc
Variant	0001
Related	also

ClinVar
Risk	rs137852931(A;A) rs137852931(C;C)
Alt	rs137852931(A;A) rs137852931(C;C)
Reference	Rs137852931(G;G)
Significance	Pathogenic
Disease	Ichthyosis
Variation	info
Gene	ST14
CLNDBN	Ichthyosis, congenital, autosomal recessive 11
Reversed	0
HGVS	NC_000011.9:g.130079629G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004253.3,