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rs587776595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776595(-;-)
Make rs587776595(-;G)
Make rs587776595(G;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position119342978
GeneC1QTNF5, MFRP
is asnp
is mentioned by
dbSNPrs587776595
ebirs587776595
HLIrs587776595
Exacrs587776595
Varsomers587776595
Maprs587776595
PheGenIrs587776595
hapmaprs587776595
1000 genomesrs587776595
hgdprs587776595
ensemblrs587776595
gopubmedrs587776595
geneviewrs587776595
scholarrs587776595
googlers587776595
pharmgkbrs587776595
gwascentralrs587776595
openSNPrs587776595
23andMers587776595
23andMe allrs587776595
SNP Nexus

SNPshotrs587776595
SNPdbers587776595
MSV3drs587776595
GWAS Ctlgrs587776595
Max Magnitude0
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,