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rs121912453

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912453(A;A)
Make rs121912453(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31659818
GeneLOC102724449, SOD1
is asnp
is mentioned by
dbSNPrs121912453
dbSNP (classic)rs121912453
ClinGenrs121912453
ebirs121912453
HLIrs121912453
Exacrs121912453
Gnomadrs121912453
Varsomers121912453
LitVarrs121912453
Maprs121912453
PheGenIrs121912453
Biobankrs121912453
1000 genomesrs121912453
hgdprs121912453
ensemblrs121912453
geneviewrs121912453
scholarrs121912453
googlers121912453
pharmgkbrs121912453
gwascentralrs121912453
openSNPrs121912453
23andMers121912453
SNPshotrs121912453
SNPdbers121912453
MSV3drs121912453
GWAS Ctlgrs121912453
Max Magnitude0
OMIM147450
Desc
Variant0025
Relatedalso
ClinVar
Risk rs121912453(A;A)
Alt rs121912453(A;A)
Reference Rs121912453(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.33032131G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015899.21,