rs28936396

Orientation

minus

Stabilized

minus

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

Make rs28936396(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

34942606

Gene

GSS

is a	snp
is	mentioned by
dbSNP	rs28936396
dbSNP (classic)	rs28936396
ClinGen	rs28936396
ebi	rs28936396
HLI	rs28936396
Exac	rs28936396
Gnomad	rs28936396
Varsome	rs28936396
LitVar	rs28936396
Map	rs28936396
PheGenI	rs28936396
Biobank	rs28936396
1000 genomes	rs28936396
hgdp	rs28936396
ensembl	rs28936396
geneview	rs28936396
scholar	rs28936396
google	rs28936396
pharmgkb	rs28936396
gwascentral	rs28936396
openSNP	rs28936396
23andMe	rs28936396
SNPshot	rs28936396
SNPdbe	rs28936396
MSV3d	rs28936396
GWAS Ctlg	rs28936396

Max Magnitude

3

OMIM	601002
Desc	GLUTATHIONE SYNTHETASE DEFICIENCY
Variant	0005
Related	also

ClinVar
Risk	rs28936396(T;T)
Alt	rs28936396(T;T)
Reference	Rs28936396(C;C)
Significance	Pathogenic
Disease	Gluthathione synthetase deficiency
Variation	info
Gene	GSS
CLNDBN	Gluthathione synthetase deficiency
Reversed	1
HGVS	NC_000020.10:g.33530409G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009055.5,