rs75863437

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a glutathione synthetase deficiency mutation
(G;G)	0	common in complete genomics

Make rs75863437(A;A)

Reference

GRCh38 38.1/141

Chromosome

20

Position

34932027

Gene

GSS

is a	snp
is	mentioned by
dbSNP	rs75863437
dbSNP (classic)	rs75863437
ClinGen	rs75863437
ebi	rs75863437
HLI	rs75863437
Exac	rs75863437
Gnomad	rs75863437
Varsome	rs75863437
LitVar	rs75863437
Map	rs75863437
PheGenI	rs75863437
Biobank	rs75863437
1000 genomes	rs75863437
hgdp	rs75863437
ensembl	rs75863437
geneview	rs75863437
scholar	rs75863437
google	rs75863437
pharmgkb	rs75863437
gwascentral	rs75863437
openSNP	rs75863437
23andMe	rs75863437
SNPshot	rs75863437
SNPdbe	rs75863437
MSV3d	rs75863437
GWAS Ctlg	rs75863437

GMAF

0.001837

Max Magnitude

3

OMIM	601002
Desc
Variant	0006
Related	also

ClinVar
Risk	rs75863437(A;A)
Alt	rs75863437(A;A)
Reference	Rs75863437(G;G)
Significance	Other
Disease	Gluthathione synthetase deficiency
Variation	info
Gene	GSS
CLNDBN	Gluthathione synthetase deficiency
Reversed	0
HGVS	NC_000020.10:g.33519830G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009056.4,