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rs121912444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912444(A;A)
Make rs121912444(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31659782
GeneLOC102724449, SOD1
is asnp
is mentioned by
dbSNPrs121912444
dbSNP (classic)rs121912444
ClinGenrs121912444
ebirs121912444
HLIrs121912444
Exacrs121912444
Gnomadrs121912444
Varsomers121912444
LitVarrs121912444
Maprs121912444
PheGenIrs121912444
Biobankrs121912444
1000 genomesrs121912444
hgdprs121912444
ensemblrs121912444
geneviewrs121912444
scholarrs121912444
googlers121912444
pharmgkbrs121912444
gwascentralrs121912444
openSNPrs121912444
23andMers121912444
SNPshotrs121912444
SNPdbers121912444
MSV3drs121912444
GWAS Ctlgrs121912444
Max Magnitude0
OMIM147450
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121912444(A;A)
Alt rs121912444(A;A)
Reference Rs121912444(G;G)
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.33032095G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015887.25,