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rs730882144

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882144(C;T)
Make rs730882144(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position119341739
GeneC1QTNF5, MFRP
is asnp
is mentioned by
dbSNPrs730882144
ebirs730882144
HLIrs730882144
Exacrs730882144
Varsomers730882144
Maprs730882144
PheGenIrs730882144
hapmaprs730882144
1000 genomesrs730882144
hgdprs730882144
ensemblrs730882144
gopubmedrs730882144
geneviewrs730882144
scholarrs730882144
googlers730882144
pharmgkbrs730882144
gwascentralrs730882144
openSNPrs730882144
23andMers730882144
23andMe allrs730882144
SNP Nexus

SNPshotrs730882144
SNPdbers730882144
MSV3drs730882144
GWAS Ctlgrs730882144
Max Magnitude0
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,