rs587776595
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587776595(-;G) |
Make rs587776595(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 119342978 |
Gene | C1QTNF5, MFRP |
is a | snp |
is | mentioned by |
dbSNP | rs587776595 |
dbSNP (classic) | rs587776595 |
ClinGen | rs587776595 |
ebi | rs587776595 |
HLI | rs587776595 |
Exac | rs587776595 |
Gnomad | rs587776595 |
Varsome | rs587776595 |
LitVar | rs587776595 |
Map | rs587776595 |
PheGenI | rs587776595 |
Biobank | rs587776595 |
1000 genomes | rs587776595 |
hgdp | rs587776595 |
ensembl | rs587776595 |
geneview | rs587776595 |
scholar | rs587776595 |
rs587776595 | |
pharmgkb | rs587776595 |
gwascentral | rs587776595 |
openSNP | rs587776595 |
23andMe | rs587776595 |
SNPshot | rs587776595 |
SNPdbe | rs587776595 |
MSV3d | rs587776595 |
GWAS Ctlg | rs587776595 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776595(G;G) |
Alt | rs587776595(G;G) |
Reference | Rs587776595(-;-) |
Significance | Pathogenic |
Disease | Nanophthalmos 2 Microphthalmia |
Variation | info |
Gene | MFRP C1QTNF5 |
CLNDBN | Nanophthalmos 2 Microphthalmia, isolated 5 |
Reversed | 0 |
HGVS | NC_000011.9:g.119213688dupG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004731.6, RCV000161910.5, |