rs587777254
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 | common in clinvar |
Make rs587777254(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 84022873 |
Gene | SLC38A8 |
is a | snp |
is | mentioned by |
dbSNP | rs587777254 |
dbSNP (classic) | rs587777254 |
ClinGen | rs587777254 |
ebi | rs587777254 |
HLI | rs587777254 |
Exac | rs587777254 |
Gnomad | rs587777254 |
Varsome | rs587777254 |
LitVar | rs587777254 |
Map | rs587777254 |
PheGenI | rs587777254 |
Biobank | rs587777254 |
1000 genomes | rs587777254 |
hgdp | rs587777254 |
ensembl | rs587777254 |
geneview | rs587777254 |
scholar | rs587777254 |
rs587777254 | |
pharmgkb | rs587777254 |
gwascentral | rs587777254 |
openSNP | rs587777254 |
23andMe | rs587777254 |
SNPshot | rs587777254 |
SNPdbe | rs587777254 |
MSV3d | rs587777254 |
GWAS Ctlg | rs587777254 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777254(A;A) |
Alt | Rs587777254(A;A) |
Reference | Rs587777254(T;T) |
Significance | Pathogenic |
Disease | FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS |
Variation | info |
Gene | SLC38A8 |
CLNDBN | FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS |
Reversed | 1 |
HGVS | NC_000016.9:g.84056478A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000111468.4, |