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rs121912460

From SNPedia

Merged intors121912437
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912460(C;C)
Make rs121912460(C;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31667298
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912460
dbSNP (classic)rs121912460
ClinGenrs121912460
ebirs121912460
HLIrs121912460
Exacrs121912460
Gnomadrs121912460
Varsomers121912460
LitVarrs121912460
Maprs121912460
PheGenIrs121912460
Biobankrs121912460
1000 genomesrs121912460
hgdprs121912460
ensemblrs121912460
geneviewrs121912460
scholarrs121912460
googlers121912460
pharmgkbrs121912460
gwascentralrs121912460
openSNPrs121912460
23andMers121912460
SNPshotrs121912460
SNPdbers121912460
MSV3drs121912460
GWAS Ctlgrs121912460
StatusMerged into rs121912437
Max Magnitude0
OMIM147450
Desc
Variant0033
Relatedalso
ClinVar
Risk rs121912460(C;C)
Alt rs121912460(C;C)
Reference Rs121912460(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.33039611G>C
CLNSRC OMIM Allelic Variant
CLNACC SCV000036174.1,