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rs121912457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912457(G;G)
Make rs121912457(G;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position31663854
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912457
dbSNP (classic)rs121912457
ClinGenrs121912457
ebirs121912457
HLIrs121912457
Exacrs121912457
Gnomadrs121912457
Varsomers121912457
LitVarrs121912457
Maprs121912457
PheGenIrs121912457
Biobankrs121912457
1000 genomesrs121912457
hgdprs121912457
ensemblrs121912457
geneviewrs121912457
scholarrs121912457
googlers121912457
pharmgkbrs121912457
gwascentralrs121912457
openSNPrs121912457
23andMers121912457
SNPshotrs121912457
SNPdbers121912457
MSV3drs121912457
GWAS Ctlgrs121912457
Max Magnitude0
OMIM147450
Desc
Variant0030
Relatedalso
ClinVar
Risk rs121912457(G;G)
Alt rs121912457(G;G)
Reference Rs121912457(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.33036167T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015904.26,