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rs121912431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912431(A;A)
Make rs121912431(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31663829
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912431
dbSNP (classic)rs121912431
ClinGenrs121912431
ebirs121912431
HLIrs121912431
Exacrs121912431
Gnomadrs121912431
Varsomers121912431
LitVarrs121912431
Maprs121912431
PheGenIrs121912431
Biobankrs121912431
1000 genomesrs121912431
hgdprs121912431
ensemblrs121912431
geneviewrs121912431
scholarrs121912431
googlers121912431
pharmgkbrs121912431
gwascentralrs121912431
openSNPrs121912431
23andMers121912431
SNPshotrs121912431
SNPdbers121912431
MSV3drs121912431
GWAS Ctlgrs121912431
Max Magnitude0
OMIM147450
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912431(A;A)
Alt rs121912431(A;A)
Reference Rs121912431(G;G)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 1 Motor neuron disease
Variation info
Gene SOD1
CLNDBN Amyotrophic lateral sclerosis type 1 Motor neuron disease
Reversed 0
HGVS NC_000021.8:g.33036142G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015874.26, RCV000492487.1,