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rs121912435

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912435(A;G)
Make rs121912435(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31663848
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912435
dbSNP (classic)rs121912435
ClinGenrs121912435
ebirs121912435
HLIrs121912435
Exacrs121912435
Gnomadrs121912435
Varsomers121912435
LitVarrs121912435
Maprs121912435
PheGenIrs121912435
Biobankrs121912435
1000 genomesrs121912435
hgdprs121912435
ensemblrs121912435
geneviewrs121912435
scholarrs121912435
googlers121912435
pharmgkbrs121912435
gwascentralrs121912435
openSNPrs121912435
23andMers121912435
SNPshotrs121912435
SNPdbers121912435
MSV3drs121912435
GWAS Ctlgrs121912435
Max Magnitude0
OMIM147450
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912435(G;G)
Alt rs121912435(G;G)
Reference Rs121912435(A;A)
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.33036161A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015878.26,