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rs121912446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912446(C;C)
Make rs121912446(C;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position31668547
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912446
dbSNP (classic)rs121912446
ClinGenrs121912446
ebirs121912446
HLIrs121912446
Exacrs121912446
Gnomadrs121912446
Varsomers121912446
LitVarrs121912446
Maprs121912446
PheGenIrs121912446
Biobankrs121912446
1000 genomesrs121912446
hgdprs121912446
ensemblrs121912446
geneviewrs121912446
scholarrs121912446
googlers121912446
pharmgkbrs121912446
gwascentralrs121912446
openSNPrs121912446
23andMers121912446
SNPshotrs121912446
SNPdbers121912446
MSV3drs121912446
GWAS Ctlgrs121912446
Max Magnitude0
OMIM147450
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121912446(C;C)
Alt rs121912446(C;C)
Reference Rs121912446(T;T)
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.33040860T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015891.25,