rs151341424
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GG;GG) | 0 | common in clinvar |
Make rs151341424(AA;AA) |
Make rs151341424(AA;GG) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 74190856 |
Gene | STRA6 |
is a | snp |
is | mentioned by |
dbSNP | rs151341424 |
dbSNP (classic) | rs151341424 |
ClinGen | rs151341424 |
ebi | rs151341424 |
HLI | rs151341424 |
Exac | rs151341424 |
Gnomad | rs151341424 |
Varsome | rs151341424 |
LitVar | rs151341424 |
Map | rs151341424 |
PheGenI | rs151341424 |
Biobank | rs151341424 |
1000 genomes | rs151341424 |
hgdp | rs151341424 |
ensembl | rs151341424 |
geneview | rs151341424 |
scholar | rs151341424 |
rs151341424 | |
pharmgkb | rs151341424 |
gwascentral | rs151341424 |
openSNP | rs151341424 |
23andMe | rs151341424 |
SNPshot | rs151341424 |
SNPdbe | rs151341424 |
MSV3d | rs151341424 |
GWAS Ctlg | rs151341424 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151341424(AA;AA) |
Alt | rs151341424(AA;AA) |
Reference | Rs151341424(GG;GG) |
Significance | Pathogenic |
Disease | Microphthalmia Microphthalmia syndromic 9 |
Variation | info |
Gene | STRA6 |
CLNDBN | Microphthalmia, isolated, with coloboma 8 Microphthalmia syndromic 9 |
Reversed | 1 |
HGVS | NC_000015.9:g.74483197_74483198delCCinsTT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032957.3, RCV000032958.3, |