rs606231126
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACT;ACT) | 0 | common in clinvar |
Make rs606231126(ACT;CC) |
Make rs606231126(CC;CC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 74202216 |
Gene | CCDC33, STRA6 |
is a | snp |
is | mentioned by |
dbSNP | rs606231126 |
dbSNP (classic) | rs606231126 |
ClinGen | rs606231126 |
ebi | rs606231126 |
HLI | rs606231126 |
Exac | rs606231126 |
Gnomad | rs606231126 |
Varsome | rs606231126 |
LitVar | rs606231126 |
Map | rs606231126 |
PheGenI | rs606231126 |
Biobank | rs606231126 |
1000 genomes | rs606231126 |
hgdp | rs606231126 |
ensembl | rs606231126 |
geneview | rs606231126 |
scholar | rs606231126 |
rs606231126 | |
pharmgkb | rs606231126 |
gwascentral | rs606231126 |
openSNP | rs606231126 |
23andMe | rs606231126 |
SNPshot | rs606231126 |
SNPdbe | rs606231126 |
MSV3d | rs606231126 |
GWAS Ctlg | rs606231126 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231126(CC;CC) |
Alt | rs606231126(CC;CC) |
Reference | Rs606231126(ACT;ACT) |
Significance | Pathogenic |
Disease | Microphthalmia syndromic 9 |
Variation | info |
Gene | STRA6 |
CLNDBN | Microphthalmia syndromic 9 |
Reversed | 1 |
HGVS | NC_000015.9:g.74494557_74494559delAGTinsGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000001198.4, |