rs121912441

Orientation

plus

Stabilized

plus

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

Make rs121912441(C;C)

Reference

GRCh38 38.1/141

Chromosome

21

Position

31667359

Gene

SOD1

is a	snp
is	mentioned by
dbSNP	rs121912441
dbSNP (classic)	rs121912441
ClinGen	rs121912441
ebi	rs121912441
HLI	rs121912441
Exac	rs121912441
Gnomad	rs121912441
Varsome	rs121912441
LitVar	rs121912441
Map	rs121912441
PheGenI	rs121912441
Biobank	rs121912441
1000 genomes	rs121912441
hgdp	rs121912441
ensembl	rs121912441
geneview	rs121912441
scholar	rs121912441
google	rs121912441
pharmgkb	rs121912441
gwascentral	rs121912441
openSNP	rs121912441
23andMe	rs121912441
SNPshot	rs121912441
SNPdbe	rs121912441
MSV3d	rs121912441
GWAS Ctlg	rs121912441

Max Magnitude

5

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,