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rs121908189

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908189(C;T)
Make rs121908189(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position119345538
GeneC1QTNF5, MFRP
is asnp
is mentioned by
dbSNPrs121908189
ebirs121908189
HLIrs121908189
Exacrs121908189
Varsomers121908189
Maprs121908189
PheGenIrs121908189
hapmaprs121908189
1000 genomesrs121908189
hgdprs121908189
ensemblrs121908189
gopubmedrs121908189
geneviewrs121908189
scholarrs121908189
googlers121908189
pharmgkbrs121908189
gwascentralrs121908189
openSNPrs121908189
23andMers121908189
23andMe allrs121908189
SNP Nexus

SNPshotrs121908189
SNPdbers121908189
MSV3drs121908189
GWAS Ctlgrs121908189
GMAF0.0004591
Max Magnitude0
OMIM606227
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908189(T;T)
Alt rs121908189(T;T)
Reference rs121908189(C;C)
Significance Pathogenic
Disease Nanophthalmos 2
Variation info
Gene MFRP C1QTNF5
CLNDBN Nanophthalmos 2
Reversed 1
HGVS NC_000011.9:g.119216248G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004732.5,