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rs121912451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912451(A;A)
Make rs121912451(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position31668517
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912451
dbSNP (classic)rs121912451
ClinGenrs121912451
ebirs121912451
HLIrs121912451
Exacrs121912451
Gnomadrs121912451
Varsomers121912451
LitVarrs121912451
Maprs121912451
PheGenIrs121912451
Biobankrs121912451
1000 genomesrs121912451
hgdprs121912451
ensemblrs121912451
geneviewrs121912451
scholarrs121912451
googlers121912451
pharmgkbrs121912451
gwascentralrs121912451
openSNPrs121912451
23andMers121912451
SNPshotrs121912451
SNPdbers121912451
MSV3drs121912451
GWAS Ctlgrs121912451
Max Magnitude0
OMIM147450
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121912451(A;A)
Alt rs121912451(A;A)
Reference Rs121912451(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.33040830G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015897.26,