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rs150232843

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs150232843(C;T)
Make rs150232843(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position119346116
GeneC1QTNF5, MFRP
is asnp
is mentioned by
dbSNPrs150232843
ebirs150232843
HLIrs150232843
Exacrs150232843
Varsomers150232843
Maprs150232843
PheGenIrs150232843
hapmaprs150232843
1000 genomesrs150232843
hgdprs150232843
ensemblrs150232843
gopubmedrs150232843
geneviewrs150232843
scholarrs150232843
googlers150232843
pharmgkbrs150232843
gwascentralrs150232843
openSNPrs150232843
23andMers150232843
23andMe allrs150232843
SNP Nexus

SNPshotrs150232843
SNPdbers150232843
MSV3drs150232843
GWAS Ctlgrs150232843
Max Magnitude0
ClinVar
Risk rs150232843(T;T)
Alt rs150232843(T;T)
Reference rs150232843(C;C)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene MFRP C1QTNF5
CLNDBN Microphthalmia, isolated 5
Reversed 0
HGVS NC_000011.9:g.119216826C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000161914.5,