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rs121912445

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912445(A;T)
Make rs121912445(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position31667331
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912445
ebirs121912445
HLIrs121912445
Exacrs121912445
Varsomers121912445
Maprs121912445
PheGenIrs121912445
hapmaprs121912445
1000 genomesrs121912445
hgdprs121912445
ensemblrs121912445
gopubmedrs121912445
geneviewrs121912445
scholarrs121912445
googlers121912445
pharmgkbrs121912445
gwascentralrs121912445
openSNPrs121912445
23andMers121912445
23andMe allrs121912445
SNP Nexus

SNPshotrs121912445
SNPdbers121912445
MSV3drs121912445
GWAS Ctlgrs121912445
Max Magnitude0
OMIM147450
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121912445(T;T)
Alt rs121912445(T;T)
Reference rs121912445(A;A)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 1
Variation info
Gene SOD1
CLNDBN Amyotrophic lateral sclerosis 1, autosomal recessive
Reversed 0
HGVS NC_000021.8:g.33039644A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015890.21,