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rs121912438

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912438(C;C)
Make rs121912438(C;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31667299
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912438
ebirs121912438
HLIrs121912438
Exacrs121912438
Varsomers121912438
Maprs121912438
PheGenIrs121912438
hapmaprs121912438
1000 genomesrs121912438
hgdprs121912438
ensemblrs121912438
gopubmedrs121912438
geneviewrs121912438
scholarrs121912438
googlers121912438
pharmgkbrs121912438
gwascentralrs121912438
openSNPrs121912438
23andMers121912438
23andMe allrs121912438
SNP Nexus

SNPshotrs121912438
SNPdbers121912438
MSV3drs121912438
GWAS Ctlgrs121912438
Max Magnitude0
OMIM147450
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912438(C;C)
Alt rs121912438(C;C)
Reference rs121912438(G;G)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 1
Variation info
Gene SOD1
CLNDBN Amyotrophic lateral sclerosis type 1
Reversed 0
HGVS NC_000021.8:g.33039612G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015882.26,


A polymorphism of the SOD1 gene known as G93A