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rs121912436

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912436(C;C)
Make rs121912436(C;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31667274
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912436
dbSNP (classic)rs121912436
ClinGenrs121912436
ebirs121912436
HLIrs121912436
Exacrs121912436
Gnomadrs121912436
Varsomers121912436
LitVarrs121912436
Maprs121912436
PheGenIrs121912436
Biobankrs121912436
1000 genomesrs121912436
hgdprs121912436
ensemblrs121912436
geneviewrs121912436
scholarrs121912436
googlers121912436
pharmgkbrs121912436
gwascentralrs121912436
openSNPrs121912436
23andMers121912436
SNPshotrs121912436
SNPdbers121912436
MSV3drs121912436
GWAS Ctlgrs121912436
Max Magnitude0
OMIM147450
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912436(C;C)
Alt rs121912436(C;C)
Reference Rs121912436(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.33039587G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015880.26,