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rs121912449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912449(C;C)
Make rs121912449(C;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position31668568
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912449
ebirs121912449
HLIrs121912449
Exacrs121912449
Varsomers121912449
Maprs121912449
PheGenIrs121912449
hapmaprs121912449
1000 genomesrs121912449
hgdprs121912449
ensemblrs121912449
gopubmedrs121912449
geneviewrs121912449
scholarrs121912449
googlers121912449
pharmgkbrs121912449
gwascentralrs121912449
openSNPrs121912449
23andMers121912449
23andMe allrs121912449
SNP Nexus

SNPshotrs121912449
SNPdbers121912449
MSV3drs121912449
GWAS Ctlgrs121912449
Max Magnitude0
OMIM147450
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121912449(C;C)
Alt rs121912449(C;C)
Reference rs121912449(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.33040881T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015895.22,