rs121909309

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a glutathione synthetase deficiency mutation

Make rs121909309(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

34932121

Gene

GSS

is a	snp
is	mentioned by
dbSNP	rs121909309
dbSNP (classic)	rs121909309
ClinGen	rs121909309
ebi	rs121909309
HLI	rs121909309
Exac	rs121909309
Gnomad	rs121909309
Varsome	rs121909309
LitVar	rs121909309
Map	rs121909309
PheGenI	rs121909309
Biobank	rs121909309
1000 genomes	rs121909309
hgdp	rs121909309
ensembl	rs121909309
geneview	rs121909309
scholar	rs121909309
google	rs121909309
pharmgkb	rs121909309
gwascentral	rs121909309
openSNP	rs121909309
23andMe	rs121909309
SNPshot	rs121909309
SNPdbe	rs121909309
MSV3d	rs121909309
GWAS Ctlg	rs121909309

Max Magnitude

3

OMIM	601002
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121909309(T;T)
Alt	rs121909309(T;T)
Reference	Rs121909309(C;C)
Significance	Pathogenic
Disease	Gluthathione synthetase deficiency
Variation	info
Gene	GSS
CLNDBN	Gluthathione synthetase deficiency
Reversed	1
HGVS	NC_000020.10:g.33519924G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009054.4,