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rs121912432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912432(C;G)
Make rs121912432(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31663832
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912432
dbSNP (classic)rs121912432
ClinGenrs121912432
ebirs121912432
HLIrs121912432
Exacrs121912432
Gnomadrs121912432
Varsomers121912432
LitVarrs121912432
Maprs121912432
PheGenIrs121912432
Biobankrs121912432
1000 genomesrs121912432
hgdprs121912432
ensemblrs121912432
geneviewrs121912432
scholarrs121912432
googlers121912432
pharmgkbrs121912432
gwascentralrs121912432
openSNPrs121912432
23andMers121912432
SNPshotrs121912432
SNPdbers121912432
MSV3drs121912432
GWAS Ctlgrs121912432
Max Magnitude0
OMIM147450
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912432(G;G)
Alt rs121912432(G;G)
Reference Rs121912432(C;C)
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.33036145C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015875.25,