rs144959805
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144959805(C;T) |
Make rs144959805(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 147659496 |
Gene | ACP6 |
is a | snp |
is | mentioned by |
dbSNP | rs144959805 |
dbSNP (classic) | rs144959805 |
ClinGen | rs144959805 |
ebi | rs144959805 |
HLI | rs144959805 |
Exac | rs144959805 |
Gnomad | rs144959805 |
Varsome | rs144959805 |
LitVar | rs144959805 |
Map | rs144959805 |
PheGenI | rs144959805 |
Biobank | rs144959805 |
1000 genomes | rs144959805 |
hgdp | rs144959805 |
ensembl | rs144959805 |
geneview | rs144959805 |
scholar | rs144959805 |
rs144959805 | |
pharmgkb | rs144959805 |
gwascentral | rs144959805 |
openSNP | rs144959805 |
23andMe | rs144959805 |
SNPshot | rs144959805 |
SNPdbe | rs144959805 |
MSV3d | rs144959805 |
GWAS Ctlg | rs144959805 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144959805(T;T) |
Alt | rs144959805(T;T) |
Reference | Rs144959805(C;C) |
Significance | Probable-Pathogenic |
Disease | Cerebral visual impairment and intellectual disability |
Variation | info |
Gene | ACP6 |
CLNDBN | Cerebral visual impairment and intellectual disability |
Reversed | 0 |
HGVS | NC_000001.10:g.147131611C>T |
CLNSRC | |
CLNACC | RCV000210392.1, |