rs730882143
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 3 | Carrier of a posterior microphthalmia mutation |
Make rs730882143(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 119345569 |
Gene | C1QTNF5, MFRP |
is a | snp |
is | mentioned by |
dbSNP | rs730882143 |
dbSNP (classic) | rs730882143 |
ClinGen | rs730882143 |
ebi | rs730882143 |
HLI | rs730882143 |
Exac | rs730882143 |
Gnomad | rs730882143 |
Varsome | rs730882143 |
LitVar | rs730882143 |
Map | rs730882143 |
PheGenI | rs730882143 |
Biobank | rs730882143 |
1000 genomes | rs730882143 |
hgdp | rs730882143 |
ensembl | rs730882143 |
geneview | rs730882143 |
scholar | rs730882143 |
rs730882143 | |
pharmgkb | rs730882143 |
gwascentral | rs730882143 |
openSNP | rs730882143 |
23andMe | rs730882143 |
SNPshot | rs730882143 |
SNPdbe | rs730882143 |
MSV3d | rs730882143 |
GWAS Ctlg | rs730882143 |
Max Magnitude | 3 |
aka c.491_492insT (p.Asn167fs)
ClinVar | |
---|---|
Risk | rs730882143(T;T) |
Alt | rs730882143(T;T) |
Reference | Rs730882143(-;-) |
Significance | Pathogenic |
Disease | Microphthalmia |
Variation | info |
Gene | MFRP C1QTNF5 |
CLNDBN | Microphthalmia, isolated 5 |
Reversed | 1 |
HGVS | NC_000011.9:g.119216279_119216280insA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000161915.5, |