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rs121918355

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918355(C;T)
Make rs121918355(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position74555629
GeneLTBP2
is asnp
is mentioned by
dbSNPrs121918355
dbSNP (classic)rs121918355
ClinGenrs121918355
ebirs121918355
HLIrs121918355
Exacrs121918355
Gnomadrs121918355
Varsomers121918355
LitVarrs121918355
Maprs121918355
PheGenIrs121918355
Biobankrs121918355
1000 genomesrs121918355
hgdprs121918355
ensemblrs121918355
geneviewrs121918355
scholarrs121918355
googlers121918355
pharmgkbrs121918355
gwascentralrs121918355
openSNPrs121918355
23andMers121918355
SNPshotrs121918355
SNPdbers121918355
MSV3drs121918355
GWAS Ctlgrs121918355
Max Magnitude0
OMIM602091
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918355(T;T)
Alt rs121918355(T;T)
Reference Rs121918355(C;C)
Significance Pathogenic
Disease Glaucoma 3 Microspherophakia
Variation info
Gene LTBP2
CLNDBN Glaucoma 3, primary congenital, d Microspherophakia
Reversed 1
HGVS NC_000014.8:g.75022332G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007990.2, RCV000024324.2,