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rs121912443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912443(A;G)
Make rs121912443(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31663857
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912443
dbSNP (classic)rs121912443
ClinGenrs121912443
ebirs121912443
HLIrs121912443
Exacrs121912443
Gnomadrs121912443
Varsomers121912443
LitVarrs121912443
Maprs121912443
PheGenIrs121912443
Biobankrs121912443
1000 genomesrs121912443
hgdprs121912443
ensemblrs121912443
geneviewrs121912443
scholarrs121912443
googlers121912443
pharmgkbrs121912443
gwascentralrs121912443
openSNPrs121912443
23andMers121912443
SNPshotrs121912443
SNPdbers121912443
MSV3drs121912443
GWAS Ctlgrs121912443
Max Magnitude0
OMIM147450
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121912443(G;G)
Alt rs121912443(G;G)
Reference Rs121912443(A;A)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 1 not provided
Variation info
Gene SOD1
CLNDBN Amyotrophic lateral sclerosis type 1 not provided
Reversed 0
HGVS NC_000021.8:g.33036170A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015886.21, RCV000281824.1,