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rs121912450

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912450(A;A)
Make rs121912450(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31659833
GeneLOC102724449, SOD1
is asnp
is mentioned by
dbSNPrs121912450
dbSNP (classic)rs121912450
ClinGenrs121912450
ebirs121912450
HLIrs121912450
Exacrs121912450
Gnomadrs121912450
Varsomers121912450
LitVarrs121912450
Maprs121912450
PheGenIrs121912450
Biobankrs121912450
1000 genomesrs121912450
hgdprs121912450
ensemblrs121912450
geneviewrs121912450
scholarrs121912450
googlers121912450
pharmgkbrs121912450
gwascentralrs121912450
openSNPrs121912450
23andMers121912450
SNPshotrs121912450
SNPdbers121912450
MSV3drs121912450
GWAS Ctlgrs121912450
Max Magnitude0
OMIM147450
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121912450(A;A)
Alt rs121912450(A;A)
Reference Rs121912450(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.33032146G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015896.26,