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rs121912459

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912459(A;A)
Make rs121912459(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31667307
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912459
dbSNP (classic)rs121912459
ClinGenrs121912459
ebirs121912459
HLIrs121912459
Exacrs121912459
Gnomadrs121912459
Varsomers121912459
LitVarrs121912459
Maprs121912459
PheGenIrs121912459
Biobankrs121912459
1000 genomesrs121912459
hgdprs121912459
ensemblrs121912459
geneviewrs121912459
scholarrs121912459
googlers121912459
pharmgkbrs121912459
gwascentralrs121912459
openSNPrs121912459
23andMers121912459
SNPshotrs121912459
SNPdbers121912459
MSV3drs121912459
GWAS Ctlgrs121912459
Max Magnitude0
OMIM147450
Desc
Variant0032
Relatedalso
ClinVar
Risk rs121912459(A;A)
Alt rs121912459(A;A)
Reference Rs121912459(G;G)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 1
Variation info
Gene SOD1
CLNDBN Amyotrophic lateral sclerosis 1, autosomal recessive
Reversed 0
HGVS NC_000021.8:g.33039620G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015906.22,