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rs121912434

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912434(A;A)
Make rs121912434(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31663842
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912434
dbSNP (classic)rs121912434
ClinGenrs121912434
ebirs121912434
HLIrs121912434
Exacrs121912434
Gnomadrs121912434
Varsomers121912434
LitVarrs121912434
Maprs121912434
PheGenIrs121912434
Biobankrs121912434
1000 genomesrs121912434
hgdprs121912434
ensemblrs121912434
geneviewrs121912434
scholarrs121912434
googlers121912434
pharmgkbrs121912434
gwascentralrs121912434
openSNPrs121912434
23andMers121912434
SNPshotrs121912434
SNPdbers121912434
MSV3drs121912434
GWAS Ctlgrs121912434
Max Magnitude0
OMIM147450
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912434(A;A)
Alt rs121912434(A;A)
Reference Rs121912434(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.33036155G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015877.26,