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rs121912456

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912456(C;C)
Make rs121912456(C;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31659806
GeneLOC102724449, SOD1
is asnp
is mentioned by
dbSNPrs121912456
dbSNP (classic)rs121912456
ClinGenrs121912456
ebirs121912456
HLIrs121912456
Exacrs121912456
Gnomadrs121912456
Varsomers121912456
LitVarrs121912456
Maprs121912456
PheGenIrs121912456
Biobankrs121912456
1000 genomesrs121912456
hgdprs121912456
ensemblrs121912456
geneviewrs121912456
scholarrs121912456
googlers121912456
pharmgkbrs121912456
gwascentralrs121912456
openSNPrs121912456
23andMers121912456
SNPshotrs121912456
SNPdbers121912456
MSV3drs121912456
GWAS Ctlgrs121912456
Max Magnitude0
OMIM147450
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121912456(C;C)
Alt rs121912456(C;C)
Reference Rs121912456(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.33032119G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015903.22,