rs755579388
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs755579388(A;A) |
Make rs755579388(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 9 |
Position | 4583108 |
Gene | SLC1A1, SPATA6L |
is a | snp |
is | mentioned by |
dbSNP | rs755579388 |
dbSNP (classic) | rs755579388 |
ClinGen | rs755579388 |
ebi | rs755579388 |
HLI | rs755579388 |
Exac | rs755579388 |
Gnomad | rs755579388 |
Varsome | rs755579388 |
LitVar | rs755579388 |
Map | rs755579388 |
PheGenI | rs755579388 |
Biobank | rs755579388 |
1000 genomes | rs755579388 |
hgdp | rs755579388 |
ensembl | rs755579388 |
geneview | rs755579388 |
scholar | rs755579388 |
rs755579388 | |
pharmgkb | rs755579388 |
gwascentral | rs755579388 |
openSNP | rs755579388 |
23andMe | rs755579388 |
SNPshot | rs755579388 |
SNPdbe | rs755579388 |
MSV3d | rs755579388 |
GWAS Ctlg | rs755579388 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755579388(A;A) |
Alt | rs755579388(A;A) |
Reference | Rs755579388(G;G) |
Significance | Probable-Pathogenic |
Disease | Cerebral visual impairment and intellectual disability |
Variation | info |
Gene | SPATA6L SLC1A1 |
CLNDBN | Cerebral visual impairment and intellectual disability |
Reversed | 0 |
HGVS | NC_000009.11:g.4583108G>A |
CLNSRC | |
CLNACC | RCV000210380.1, |