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rs387907174

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907174(C;T)
Make rs387907174(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position74503252
GeneLTBP2
is asnp
is mentioned by
dbSNPrs387907174
dbSNP (classic)rs387907174
ClinGenrs387907174
ebirs387907174
HLIrs387907174
Exacrs387907174
Gnomadrs387907174
Varsomers387907174
LitVarrs387907174
Maprs387907174
PheGenIrs387907174
Biobankrs387907174
1000 genomesrs387907174
hgdprs387907174
ensemblrs387907174
geneviewrs387907174
scholarrs387907174
googlers387907174
pharmgkbrs387907174
gwascentralrs387907174
openSNPrs387907174
23andMers387907174
SNPshotrs387907174
SNPdbers387907174
MSV3drs387907174
GWAS Ctlgrs387907174
Max Magnitude0
ClinVar
Risk rs387907174(T;T)
Alt rs387907174(T;T)
Reference Rs387907174(C;C)
Significance Pathogenic
Disease Microspherophakia
Variation info
Gene LTBP2
CLNDBN Microspherophakia
Reversed 1
HGVS NC_000014.8:g.74969955G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024327.3,