rs149592537
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs149592537(A;A) |
Make rs149592537(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 84031901 |
Gene | SLC38A8 |
is a | snp |
is | mentioned by |
dbSNP | rs149592537 |
dbSNP (classic) | rs149592537 |
ClinGen | rs149592537 |
ebi | rs149592537 |
HLI | rs149592537 |
Exac | rs149592537 |
Gnomad | rs149592537 |
Varsome | rs149592537 |
LitVar | rs149592537 |
Map | rs149592537 |
PheGenI | rs149592537 |
Biobank | rs149592537 |
1000 genomes | rs149592537 |
hgdp | rs149592537 |
ensembl | rs149592537 |
geneview | rs149592537 |
scholar | rs149592537 |
rs149592537 | |
pharmgkb | rs149592537 |
gwascentral | rs149592537 |
openSNP | rs149592537 |
23andMe | rs149592537 |
SNPshot | rs149592537 |
SNPdbe | rs149592537 |
MSV3d | rs149592537 |
GWAS Ctlg | rs149592537 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149592537(A;A) |
Alt | rs149592537(A;A) |
Reference | Rs149592537(G;G) |
Significance | Pathogenic |
Disease | Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis |
Variation | info |
Gene | SLC38A8 |
CLNDBN | Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis |
Reversed | 0 |
HGVS | NC_000016.9:g.84065506G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000111472.3, |