rs121912438
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121912438(C;C) |
Make rs121912438(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 31667299 |
Gene | SOD1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912438 |
dbSNP (classic) | rs121912438 |
ClinGen | rs121912438 |
ebi | rs121912438 |
HLI | rs121912438 |
Exac | rs121912438 |
Gnomad | rs121912438 |
Varsome | rs121912438 |
LitVar | rs121912438 |
Map | rs121912438 |
PheGenI | rs121912438 |
Biobank | rs121912438 |
1000 genomes | rs121912438 |
hgdp | rs121912438 |
ensembl | rs121912438 |
geneview | rs121912438 |
scholar | rs121912438 |
rs121912438 | |
pharmgkb | rs121912438 |
gwascentral | rs121912438 |
openSNP | rs121912438 |
23andMe | rs121912438 |
SNPshot | rs121912438 |
SNPdbe | rs121912438 |
MSV3d | rs121912438 |
GWAS Ctlg | rs121912438 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912438(C;C) |
Alt | rs121912438(C;C) |
Reference | Rs121912438(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.33039612G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015882.26, |
A polymorphism of the SOD1 gene known as G93A