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rs730882142

From SNPedia

Orientationminus
Geno Mag Summary
(TCTG;TCTG) 0 common in clinvar
Make rs730882142(-;-)
Make rs730882142(-;TCTG)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position119341663
GeneC1QTNF5, MFRP
is asnp
is mentioned by
dbSNPrs730882142
ebirs730882142
HLIrs730882142
Exacrs730882142
Varsomers730882142
Maprs730882142
PheGenIrs730882142
hapmaprs730882142
1000 genomesrs730882142
hgdprs730882142
ensemblrs730882142
gopubmedrs730882142
geneviewrs730882142
scholarrs730882142
googlers730882142
pharmgkbrs730882142
gwascentralrs730882142
openSNPrs730882142
23andMers730882142
23andMe allrs730882142
SNP Nexus

SNPshotrs730882142
SNPdbers730882142
MSV3drs730882142
GWAS Ctlgrs730882142
Max Magnitude0
ClinVar
Risk rs730882142(;)
Alt rs730882142(;)
Reference rs730882142(TCTG;TCTG)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene MFRP C1QTNF5
CLNDBN Microphthalmia, isolated 5
Reversed 1
HGVS NC_000011.9:g.119212373_119212376delCAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000161913.5,