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rs121918356

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918356(C;T)
Make rs121918356(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position74611614
GeneLOC101928352, LTBP2
is asnp
is mentioned by
dbSNPrs121918356
dbSNP (classic)rs121918356
ClinGenrs121918356
ebirs121918356
HLIrs121918356
Exacrs121918356
Gnomadrs121918356
Varsomers121918356
LitVarrs121918356
Maprs121918356
PheGenIrs121918356
Biobankrs121918356
1000 genomesrs121918356
hgdprs121918356
ensemblrs121918356
geneviewrs121918356
scholarrs121918356
googlers121918356
pharmgkbrs121918356
gwascentralrs121918356
openSNPrs121918356
23andMers121918356
SNPshotrs121918356
SNPdbers121918356
MSV3drs121918356
GWAS Ctlgrs121918356
Max Magnitude0
OMIM602091
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918356(T;T)
Alt rs121918356(T;T)
Reference Rs121918356(C;C)
Significance Pathogenic
Disease Glaucoma 3
Variation info
Gene LTBP2 LOC101928352
CLNDBN Glaucoma 3, primary congenital, d
Reversed 1
HGVS NC_000014.8:g.75078317G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007993.2,