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rs121912433

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912433(A;A)
Make rs121912433(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31663841
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912433
dbSNP (classic)rs121912433
ClinGenrs121912433
ebirs121912433
HLIrs121912433
Exacrs121912433
Gnomadrs121912433
Varsomers121912433
LitVarrs121912433
Maprs121912433
PheGenIrs121912433
Biobankrs121912433
1000 genomesrs121912433
hgdprs121912433
ensemblrs121912433
geneviewrs121912433
scholarrs121912433
googlers121912433
pharmgkbrs121912433
gwascentralrs121912433
openSNPrs121912433
23andMers121912433
SNPshotrs121912433
SNPdbers121912433
MSV3drs121912433
GWAS Ctlgrs121912433
Max Magnitude0
OMIM147450
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912433(A;A)
Alt rs121912433(A;A)
Reference Rs121912433(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.33036154G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015876.21,