rs397514653
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397514653(C;C) |
Make rs397514653(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 100914711 |
Gene | ALDH1A3, LOC101927751 |
is a | snp |
is | mentioned by |
dbSNP | rs397514653 |
dbSNP (classic) | rs397514653 |
ClinGen | rs397514653 |
ebi | rs397514653 |
HLI | rs397514653 |
Exac | rs397514653 |
Gnomad | rs397514653 |
Varsome | rs397514653 |
LitVar | rs397514653 |
Map | rs397514653 |
PheGenI | rs397514653 |
Biobank | rs397514653 |
1000 genomes | rs397514653 |
hgdp | rs397514653 |
ensembl | rs397514653 |
geneview | rs397514653 |
scholar | rs397514653 |
rs397514653 | |
pharmgkb | rs397514653 |
gwascentral | rs397514653 |
openSNP | rs397514653 |
23andMe | rs397514653 |
SNPshot | rs397514653 |
SNPdbe | rs397514653 |
MSV3d | rs397514653 |
GWAS Ctlg | rs397514653 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514653(A;A) rs397514653(C;C) |
Alt | rs397514653(A;A) rs397514653(C;C) |
Reference | Rs397514653(G;G) |
Significance | Pathogenic |
Disease | Microphthalmia |
Variation | info |
Gene | LOC101927751 ALDH1A3 |
CLNDBN | Microphthalmia, isolated 8 |
Reversed | 0 |
HGVS | NC_000015.9:g.101454916G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000033222.3, |