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rs121912447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912447(A;A)
Make rs121912447(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31668549
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912447
dbSNP (classic)rs121912447
ClinGenrs121912447
ebirs121912447
HLIrs121912447
Exacrs121912447
Gnomadrs121912447
Varsomers121912447
LitVarrs121912447
Maprs121912447
PheGenIrs121912447
Biobankrs121912447
1000 genomesrs121912447
hgdprs121912447
ensemblrs121912447
geneviewrs121912447
scholarrs121912447
googlers121912447
pharmgkbrs121912447
gwascentralrs121912447
openSNPrs121912447
23andMers121912447
SNPshotrs121912447
SNPdbers121912447
MSV3drs121912447
GWAS Ctlgrs121912447
Max Magnitude0
OMIM147450
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121912447(A;A)
Alt rs121912447(A;A)
Reference Rs121912447(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.33040862G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015892.26,