rs730882144
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730882144(C;T) |
Make rs730882144(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 119341739 |
Gene | C1QTNF5, MFRP |
is a | snp |
is | mentioned by |
dbSNP | rs730882144 |
dbSNP (classic) | rs730882144 |
ClinGen | rs730882144 |
ebi | rs730882144 |
HLI | rs730882144 |
Exac | rs730882144 |
Gnomad | rs730882144 |
Varsome | rs730882144 |
LitVar | rs730882144 |
Map | rs730882144 |
PheGenI | rs730882144 |
Biobank | rs730882144 |
1000 genomes | rs730882144 |
hgdp | rs730882144 |
ensembl | rs730882144 |
geneview | rs730882144 |
scholar | rs730882144 |
rs730882144 | |
pharmgkb | rs730882144 |
gwascentral | rs730882144 |
openSNP | rs730882144 |
23andMe | rs730882144 |
SNPshot | rs730882144 |
SNPdbe | rs730882144 |
MSV3d | rs730882144 |
GWAS Ctlg | rs730882144 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882144(T;T) |
Alt | rs730882144(T;T) |
Reference | Rs730882144(C;C) |
Significance | Pathogenic |
Disease | Microphthalmia |
Variation | info |
Gene | MFRP C1QTNF5 |
CLNDBN | Microphthalmia, isolated 5 |
Reversed | 1 |
HGVS | NC_000011.9:g.119212449G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000161916.5, |