rs119476050
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119476050(C;T) |
Make rs119476050(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 50628154 |
Gene | ATL1 |
is a | snp |
is | mentioned by |
dbSNP | rs119476050 |
dbSNP (classic) | rs119476050 |
ClinGen | rs119476050 |
ebi | rs119476050 |
HLI | rs119476050 |
Exac | rs119476050 |
Gnomad | rs119476050 |
Varsome | rs119476050 |
LitVar | rs119476050 |
Map | rs119476050 |
PheGenI | rs119476050 |
Biobank | rs119476050 |
1000 genomes | rs119476050 |
hgdp | rs119476050 |
ensembl | rs119476050 |
geneview | rs119476050 |
scholar | rs119476050 |
rs119476050 | |
pharmgkb | rs119476050 |
gwascentral | rs119476050 |
openSNP | rs119476050 |
23andMe | rs119476050 |
SNPshot | rs119476050 |
SNPdbe | rs119476050 |
MSV3d | rs119476050 |
GWAS Ctlg | rs119476050 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119476050(T;T) |
Alt | rs119476050(T;T) |
Reference | Rs119476050(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 3 Inborn genetic diseases |
Variation | info |
Gene | ATL1 |
CLNDBN | Spastic paraplegia 3 Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000014.8:g.51094872C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000004600.5, RCV000190652.1, |