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rs121912440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912440(C;G)
Make rs121912440(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31667337
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912440
dbSNP (classic)rs121912440
ClinGenrs121912440
ebirs121912440
HLIrs121912440
Exacrs121912440
Gnomadrs121912440
Varsomers121912440
LitVarrs121912440
Maprs121912440
PheGenIrs121912440
Biobankrs121912440
1000 genomesrs121912440
hgdprs121912440
ensemblrs121912440
geneviewrs121912440
scholarrs121912440
googlers121912440
pharmgkbrs121912440
gwascentralrs121912440
openSNPrs121912440
23andMers121912440
SNPshotrs121912440
SNPdbers121912440
MSV3drs121912440
GWAS Ctlgrs121912440
Max Magnitude0
OMIM147450
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912440(G;G)
Alt rs121912440(G;G)
Reference Rs121912440(C;C)
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.33039650C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015879.26,