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rs730882143

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730882143(-;-)
Make rs730882143(-;T)
Make rs730882143(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position119345569
GeneC1QTNF5, MFRP
is asnp
is mentioned by
dbSNPrs730882143
ebirs730882143
HLIrs730882143
Exacrs730882143
Varsomers730882143
Maprs730882143
PheGenIrs730882143
hapmaprs730882143
1000 genomesrs730882143
hgdprs730882143
ensemblrs730882143
gopubmedrs730882143
geneviewrs730882143
scholarrs730882143
googlers730882143
pharmgkbrs730882143
gwascentralrs730882143
openSNPrs730882143
23andMers730882143
23andMe allrs730882143
SNP Nexus

SNPshotrs730882143
SNPdbers730882143
MSV3drs730882143
GWAS Ctlgrs730882143
Max Magnitude0
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,