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rs121912454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912454(A;A)
Make rs121912454(A;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position31668493
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912454
dbSNP (classic)rs121912454
ClinGenrs121912454
ebirs121912454
HLIrs121912454
Exacrs121912454
Gnomadrs121912454
Varsomers121912454
LitVarrs121912454
Maprs121912454
PheGenIrs121912454
Biobankrs121912454
1000 genomesrs121912454
hgdprs121912454
ensemblrs121912454
geneviewrs121912454
scholarrs121912454
googlers121912454
pharmgkbrs121912454
gwascentralrs121912454
openSNPrs121912454
23andMers121912454
SNPshotrs121912454
SNPdbers121912454
MSV3drs121912454
GWAS Ctlgrs121912454
Max Magnitude0
OMIM147450
Desc
Variant0026
Relatedalso
ClinVar
Risk rs121912454(A;A)
Alt rs121912454(A;A)
Reference Rs121912454(T;T)
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.33040806T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015900.26,