Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045054

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045054(C;T)
Make rs797045054(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position119344332
GeneC1QTNF5, MFRP
is asnp
is mentioned by
dbSNPrs797045054
ClinGenrs797045054
ebirs797045054
HLIrs797045054
Exacrs797045054
Varsomers797045054
Maprs797045054
PheGenIrs797045054
hapmaprs797045054
1000 genomesrs797045054
hgdprs797045054
ensemblrs797045054
gopubmedrs797045054
geneviewrs797045054
scholarrs797045054
googlers797045054
pharmgkbrs797045054
gwascentralrs797045054
openSNPrs797045054
23andMers797045054
23andMe allrs797045054
SNP Nexus

SNPshotrs797045054
SNPdbers797045054
MSV3drs797045054
GWAS Ctlgrs797045054
Max Magnitude0
ClinVar
Risk rs797045054(T;T)
Alt rs797045054(T;T)
Reference Rs797045054(C;C)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene MFRP C1QTNF5
CLNDBN Microphthalmia, isolated 5
Reversed 1
HGVS NC_000011.9:g.119215042G>A
CLNSRC Baylor College of Medicine
CLNACC RCV000191105.1,