rs119476051
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs119476051(G;G) |
Make rs119476051(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 50591587 |
Gene | ATL1 |
is a | snp |
is | mentioned by |
dbSNP | rs119476051 |
dbSNP (classic) | rs119476051 |
ClinGen | rs119476051 |
ebi | rs119476051 |
HLI | rs119476051 |
Exac | rs119476051 |
Gnomad | rs119476051 |
Varsome | rs119476051 |
LitVar | rs119476051 |
Map | rs119476051 |
PheGenI | rs119476051 |
Biobank | rs119476051 |
1000 genomes | rs119476051 |
hgdp | rs119476051 |
ensembl | rs119476051 |
geneview | rs119476051 |
scholar | rs119476051 |
rs119476051 | |
pharmgkb | rs119476051 |
gwascentral | rs119476051 |
openSNP | rs119476051 |
23andMe | rs119476051 |
SNPshot | rs119476051 |
SNPdbe | rs119476051 |
MSV3d | rs119476051 |
GWAS Ctlg | rs119476051 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119476051(G;G) |
Alt | rs119476051(G;G) |
Reference | Rs119476051(T;T) |
Significance | Pathogenic |
Disease | Spastic paraplegia 3 |
Variation | info |
Gene | ATL1 |
CLNDBN | Spastic paraplegia 3 |
Reversed | 0 |
HGVS | NC_000014.8:g.51058305T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004601.5, |