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rs121912441

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 5 Amyotrophic Lateral Sclerosis I114T mutation
(T;T) 0 common in clinvar


Make rs121912441(C;C)
ReferenceGRCh38 38.1/141
Chromosome21
Position31667359
GeneSOD1
is asnp
is mentioned by
dbSNPrs121912441
dbSNP (old)rs121912441
ClinGenrs121912441
ebirs121912441
HLIrs121912441
Exacrs121912441
Varsomers121912441
Maprs121912441
PheGenIrs121912441
Biobankrs121912441
1000 genomesrs121912441
hgdprs121912441
ensemblrs121912441
gopubmedrs121912441
geneviewrs121912441
scholarrs121912441
googlers121912441
pharmgkbrs121912441
gwascentralrs121912441
openSNPrs121912441
23andMers121912441
23andMe allrs121912441
SNP Nexus

SNPshotrs121912441
SNPdbers121912441
MSV3drs121912441
GWAS Ctlgrs121912441
Max Magnitude5

rs121912441, also known as c.341T>C, p.Ile114Thr and I114T, represents a rare mutation in the SOD1 gene on chromosome 21.

The minor rs121912441(C) allele is considered an autosomal dominant mutation leading to amyotrophic lateral sclerosis according to two sources in ClinVar.


ClinVar
Risk rs121912441(C;C)
Alt rs121912441(C;C)
Reference Rs121912441(T;T)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 1 not provided Motor neuron disease
Variation info
Gene SOD1
CLNDBN Amyotrophic lateral sclerosis type 1 not provided Motor neuron disease
Reversed 0
HGVS NC_000021.8:g.33039672T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000178103.1, RCV000255754.1, RCV000492500.1,