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rs121912455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912455(A;A)
Make rs121912455(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31666496
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912455
dbSNP (classic)rs121912455
ClinGenrs121912455
ebirs121912455
HLIrs121912455
Exacrs121912455
Gnomadrs121912455
Varsomers121912455
LitVarrs121912455
Maprs121912455
PheGenIrs121912455
Biobankrs121912455
1000 genomesrs121912455
hgdprs121912455
ensemblrs121912455
geneviewrs121912455
scholarrs121912455
googlers121912455
pharmgkbrs121912455
gwascentralrs121912455
openSNPrs121912455
23andMers121912455
SNPshotrs121912455
SNPdbers121912455
MSV3drs121912455
GWAS Ctlgrs121912455
Max Magnitude0
OMIM147450
Desc
Variant0028
Relatedalso
ClinVar
Risk rs121912455(A;A)
Alt rs121912455(A;A)
Reference Rs121912455(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.33038809G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015902.26,