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rs28936396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28936396(C;T)
Make rs28936396(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position34942606
GeneGSS
is asnp
is mentioned by
dbSNPrs28936396
ebirs28936396
HLIrs28936396
Exacrs28936396
Varsomers28936396
Maprs28936396
PheGenIrs28936396
hapmaprs28936396
1000 genomesrs28936396
hgdprs28936396
ensemblrs28936396
gopubmedrs28936396
geneviewrs28936396
scholarrs28936396
googlers28936396
pharmgkbrs28936396
gwascentralrs28936396
openSNPrs28936396
23andMers28936396
23andMe allrs28936396
SNP Nexus

SNPshotrs28936396
SNPdbers28936396
MSV3drs28936396
GWAS Ctlgrs28936396
Max Magnitude0
OMIM601002
DescGLUTATHIONE SYNTHETASE DEFICIENCY
Variant0005
Relatedalso


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,