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rs606231145

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231145(-;-)
Make rs606231145(-;C)
Make rs606231145(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position119345562
GeneC1QTNF5, MFRP
is asnp
is mentioned by
dbSNPrs606231145
ebirs606231145
HLIrs606231145
Exacrs606231145
Varsomers606231145
Maprs606231145
PheGenIrs606231145
hapmaprs606231145
1000 genomesrs606231145
hgdprs606231145
ensemblrs606231145
gopubmedrs606231145
geneviewrs606231145
scholarrs606231145
googlers606231145
pharmgkbrs606231145
gwascentralrs606231145
openSNPrs606231145
23andMers606231145
23andMe allrs606231145
SNP Nexus

SNPshotrs606231145
SNPdbers606231145
MSV3drs606231145
GWAS Ctlgrs606231145
Max Magnitude0
ClinVar
Risk rs606231145(C;C)
Alt rs606231145(C;C)
Reference rs606231145(;)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene MFRP C1QTNF5
CLNDBN Microphthalmia, isolated 5
Reversed 1
HGVS NC_000011.9:g.119216273dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004735.5,