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rs28938472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28938472(A;G)
Make rs28938472(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position34936976
GeneGSS
is asnp
is mentioned by
dbSNPrs28938472
ebirs28938472
HLIrs28938472
Exacrs28938472
Varsomers28938472
Maprs28938472
PheGenIrs28938472
hapmaprs28938472
1000 genomesrs28938472
hgdprs28938472
ensemblrs28938472
gopubmedrs28938472
geneviewrs28938472
scholarrs28938472
googlers28938472
pharmgkbrs28938472
gwascentralrs28938472
openSNPrs28938472
23andMers28938472
23andMe allrs28938472
SNP Nexus

SNPshotrs28938472
SNPdbers28938472
MSV3drs28938472
GWAS Ctlgrs28938472
Max Magnitude0
OMIM601002
DescGLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO
Variant0007
Relatedalso


ClinVar
Risk rs28938472(G;G)
Alt rs28938472(G;G)
Reference rs28938472(A;A)
Significance Pathogenic
Disease Glutathione synthetase deficiency of erythrocytes
Variation info
Gene GSS
CLNDBN Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
Reversed 1
HGVS NC_000020.10:g.33524779T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009057.3,