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rs121907946

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121907946(A;T)
Make rs121907946(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position53507001
GeneGCLC
is asnp
is mentioned by
dbSNPrs121907946
ebirs121907946
HLIrs121907946
Exacrs121907946
Varsomers121907946
Maprs121907946
PheGenIrs121907946
hapmaprs121907946
1000 genomesrs121907946
hgdprs121907946
ensemblrs121907946
gopubmedrs121907946
geneviewrs121907946
scholarrs121907946
googlers121907946
pharmgkbrs121907946
gwascentralrs121907946
openSNPrs121907946
23andMers121907946
23andMe allrs121907946
SNP Nexus

SNPshotrs121907946
SNPdbers121907946
MSV3drs121907946
GWAS Ctlgrs121907946
Max Magnitude0
OMIM606857
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121907946(T;T)
Alt rs121907946(T;T)
Reference rs121907946(A;A)
Significance Pathogenic
Disease Gamma-glutamylcysteine synthetase deficiency
Variation info
Gene GCLC
CLNDBN Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
Reversed 1
HGVS NC_000006.11:g.53371799T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004164.2,