rs78931658
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs78931658(C;G) |
Make rs78931658(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 100892640 |
Gene | ALDH1A3, LOC101927751 |
is a | snp |
is | mentioned by |
dbSNP | rs78931658 |
dbSNP (classic) | rs78931658 |
ClinGen | rs78931658 |
ebi | rs78931658 |
HLI | rs78931658 |
Exac | rs78931658 |
Gnomad | rs78931658 |
Varsome | rs78931658 |
LitVar | rs78931658 |
Map | rs78931658 |
PheGenI | rs78931658 |
Biobank | rs78931658 |
1000 genomes | rs78931658 |
hgdp | rs78931658 |
ensembl | rs78931658 |
geneview | rs78931658 |
scholar | rs78931658 |
rs78931658 | |
pharmgkb | rs78931658 |
gwascentral | rs78931658 |
openSNP | rs78931658 |
23andMe | rs78931658 |
SNPshot | rs78931658 |
SNPdbe | rs78931658 |
MSV3d | rs78931658 |
GWAS Ctlg | rs78931658 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs78931658(A;A) rs78931658(G;G) rs78931658(T;T) |
Alt | rs78931658(A;A) rs78931658(G;G) rs78931658(T;T) |
Reference | Rs78931658(C;C) |
Significance | Pathogenic |
Disease | Microphthalmia |
Variation | info |
Gene | LOC101927751 ALDH1A3 |
CLNDBN | Microphthalmia, isolated 8 |
Reversed | 1 |
HGVS | NC_000015.9:g.101432845G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000033223.5, |