Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912437

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912437(G;T)
Make rs121912437(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position31667298
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912437
dbSNP (classic)rs121912437
ClinGenrs121912437
ebirs121912437
HLIrs121912437
Exacrs121912437
Gnomadrs121912437
Varsomers121912437
LitVarrs121912437
Maprs121912437
PheGenIrs121912437
Biobankrs121912437
1000 genomesrs121912437
hgdprs121912437
ensemblrs121912437
geneviewrs121912437
scholarrs121912437
googlers121912437
pharmgkbrs121912437
gwascentralrs121912437
openSNPrs121912437
23andMers121912437
SNPshotrs121912437
SNPdbers121912437
MSV3drs121912437
GWAS Ctlgrs121912437
Merged fromRs121912460
Max Magnitude0
OMIM147450
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912437(C;C) rs121912437(T;T)
Alt rs121912437(C;C) rs121912437(T;T)
Reference Rs121912437(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.33039611G>C; NC_000021.8:g.33039611G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015907.21, RCV000492720.1, RCV000015881.22,