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rs121908190

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908190(C;C)
Make rs121908190(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position119345516
GeneC1QTNF5, MFRP
is asnp
is mentioned by
dbSNPrs121908190
ebirs121908190
HLIrs121908190
Exacrs121908190
Varsomers121908190
Maprs121908190
PheGenIrs121908190
hapmaprs121908190
1000 genomesrs121908190
hgdprs121908190
ensemblrs121908190
gopubmedrs121908190
geneviewrs121908190
scholarrs121908190
googlers121908190
pharmgkbrs121908190
gwascentralrs121908190
openSNPrs121908190
23andMers121908190
23andMe allrs121908190
SNP Nexus

SNPshotrs121908190
SNPdbers121908190
MSV3drs121908190
GWAS Ctlgrs121908190
Max Magnitude0
OMIM606227
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908190(C;C)
Alt rs121908190(C;C)
Reference rs121908190(T;T)
Significance Pathogenic
Disease Nanophthalmos 2
Variation info
Gene MFRP C1QTNF5
CLNDBN Nanophthalmos 2
Reversed 1
HGVS NC_000011.9:g.119216226A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004734.4,