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rs587776596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776596(-;-)
Make rs587776596(-;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position119345563
GeneC1QTNF5, MFRP
is asnp
is mentioned by
dbSNPrs587776596
ebirs587776596
HLIrs587776596
Exacrs587776596
Varsomers587776596
Maprs587776596
PheGenIrs587776596
hapmaprs587776596
1000 genomesrs587776596
hgdprs587776596
ensemblrs587776596
gopubmedrs587776596
geneviewrs587776596
scholarrs587776596
googlers587776596
pharmgkbrs587776596
gwascentralrs587776596
openSNPrs587776596
23andMers587776596
23andMe allrs587776596
SNP Nexus

SNPshotrs587776596
SNPdbers587776596
MSV3drs587776596
GWAS Ctlgrs587776596
Max Magnitude0
ClinVar
Risk rs587776596(;)
Alt rs587776596(;)
Reference rs587776596(G;G)
Significance Pathogenic
Disease Nanophthalmos 2 Microphthalmia
Variation info
Gene MFRP C1QTNF5
CLNDBN Nanophthalmos 2 Microphthalmia, isolated 5
Reversed 0
HGVS NC_000011.9:g.119216273delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004733.6, RCV000161911.5,