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rs121912439

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912439(A;G)
Make rs121912439(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31667320
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912439
dbSNP (classic)rs121912439
ClinGenrs121912439
ebirs121912439
HLIrs121912439
Exacrs121912439
Gnomadrs121912439
Varsomers121912439
LitVarrs121912439
Maprs121912439
PheGenIrs121912439
Biobankrs121912439
1000 genomesrs121912439
hgdprs121912439
ensemblrs121912439
geneviewrs121912439
scholarrs121912439
googlers121912439
pharmgkbrs121912439
gwascentralrs121912439
openSNPrs121912439
23andMers121912439
SNPshotrs121912439
SNPdbers121912439
MSV3drs121912439
GWAS Ctlgrs121912439
Max Magnitude0
OMIM147450
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121912439(G;G)
Alt rs121912439(G;G)
Reference Rs121912439(A;A)
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.33039633A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015883.26, RCV000492233.1,