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rs121912452

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912452(G;G)
Make rs121912452(G;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position31667271
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912452
dbSNP (classic)rs121912452
ClinGenrs121912452
ebirs121912452
HLIrs121912452
Exacrs121912452
Gnomadrs121912452
Varsomers121912452
LitVarrs121912452
Maprs121912452
PheGenIrs121912452
Biobankrs121912452
1000 genomesrs121912452
hgdprs121912452
ensemblrs121912452
geneviewrs121912452
scholarrs121912452
googlers121912452
pharmgkbrs121912452
gwascentralrs121912452
openSNPrs121912452
23andMers121912452
SNPshotrs121912452
SNPdbers121912452
MSV3drs121912452
GWAS Ctlgrs121912452
Max Magnitude0
OMIM147450
Desc
Variant0024
Relatedalso
ClinVar
Risk rs121912452(C;C) rs121912452(G;G)
Alt rs121912452(C;C) rs121912452(G;G)
Reference Rs121912452(T;T)
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.33039584T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015898.21,