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rs121912442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912442(C;T)
Make rs121912442(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position31659783
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912442
ebirs121912442
HLIrs121912442
Exacrs121912442
Varsomers121912442
Maprs121912442
PheGenIrs121912442
hapmaprs121912442
1000 genomesrs121912442
hgdprs121912442
ensemblrs121912442
gopubmedrs121912442
geneviewrs121912442
scholarrs121912442
googlers121912442
pharmgkbrs121912442
gwascentralrs121912442
openSNPrs121912442
23andMers121912442
23andMe allrs121912442
SNP Nexus

SNPshotrs121912442
SNPdbers121912442
MSV3drs121912442
GWAS Ctlgrs121912442
Max Magnitude0
OMIM147450
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121912442(T;T)
Alt rs121912442(T;T)
Reference rs121912442(C;C)
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.33032096C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015885.27,


A polymorphism on the SOD1 gene known as A4V.