rs121909308

Orientation

minus

Stabilized

minus

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

Make rs121909308(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

34935611

Gene

GSS

is a	snp
is	mentioned by
dbSNP	rs121909308
dbSNP (classic)	rs121909308
ClinGen	rs121909308
ebi	rs121909308
HLI	rs121909308
Exac	rs121909308
Gnomad	rs121909308
Varsome	rs121909308
LitVar	rs121909308
Map	rs121909308
PheGenI	rs121909308
Biobank	rs121909308
1000 genomes	rs121909308
hgdp	rs121909308
ensembl	rs121909308
geneview	rs121909308
scholar	rs121909308
google	rs121909308
pharmgkb	rs121909308
gwascentral	rs121909308
openSNP	rs121909308
23andMe	rs121909308
SNPshot	rs121909308
SNPdbe	rs121909308
MSV3d	rs121909308
GWAS Ctlg	rs121909308

Max Magnitude

3

OMIM	601002
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121909308(T;T)
Alt	rs121909308(T;T)
Reference	Rs121909308(C;C)
Significance	Pathogenic
Disease	Gluthathione synthetase deficiency
Variation	info
Gene	GSS
CLNDBN	Gluthathione synthetase deficiency
Reversed	1
HGVS	NC_000020.10:g.33523414G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009053.3,