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rs730882141

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882141(A;A)
Make rs730882141(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position119344339
GeneC1QTNF5, MFRP
is asnp
is mentioned by
dbSNPrs730882141
ebirs730882141
HLIrs730882141
Exacrs730882141
Varsomers730882141
Maprs730882141
PheGenIrs730882141
hapmaprs730882141
1000 genomesrs730882141
hgdprs730882141
ensemblrs730882141
gopubmedrs730882141
geneviewrs730882141
scholarrs730882141
googlers730882141
pharmgkbrs730882141
gwascentralrs730882141
openSNPrs730882141
23andMers730882141
23andMe allrs730882141
SNP Nexus

SNPshotrs730882141
SNPdbers730882141
MSV3drs730882141
GWAS Ctlgrs730882141
Max Magnitude0
ClinVar
Risk rs730882141(A;A)
Alt rs730882141(A;A)
Reference rs730882141(C;C)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene MFRP C1QTNF5
CLNDBN Microphthalmia, isolated 5
Reversed 1
HGVS NC_000011.9:g.119215049G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000161912.5,