rs121909484
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121909484(G;G) |
Make rs121909484(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 155853659 |
Gene | LOC105374174, SLC33A1 |
is a | snp |
is | mentioned by |
dbSNP | rs121909484 |
dbSNP (classic) | rs121909484 |
ClinGen | rs121909484 |
ebi | rs121909484 |
HLI | rs121909484 |
Exac | rs121909484 |
Gnomad | rs121909484 |
Varsome | rs121909484 |
LitVar | rs121909484 |
Map | rs121909484 |
PheGenI | rs121909484 |
Biobank | rs121909484 |
1000 genomes | rs121909484 |
hgdp | rs121909484 |
ensembl | rs121909484 |
geneview | rs121909484 |
scholar | rs121909484 |
rs121909484 | |
pharmgkb | rs121909484 |
gwascentral | rs121909484 |
openSNP | rs121909484 |
23andMe | rs121909484 |
SNPshot | rs121909484 |
SNPdbe | rs121909484 |
MSV3d | rs121909484 |
GWAS Ctlg | rs121909484 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909484(G;G) |
Alt | rs121909484(G;G) |
Reference | Rs121909484(T;T) |
Significance | Pathogenic |
Disease | Spastic paraplegia 42 |
Variation | info |
Gene | SLC33A1 |
CLNDBN | Spastic paraplegia 42, autosomal dominant |
Reversed | 1 |
HGVS | NC_000003.11:g.155571448A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000006506.5, |