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rs387907175

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907175(A;A)
Make rs387907175(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position74505039
GeneLTBP2
is asnp
is mentioned by
dbSNPrs387907175
ebirs387907175
HLIrs387907175
Exacrs387907175
Varsomers387907175
Maprs387907175
PheGenIrs387907175
hapmaprs387907175
1000 genomesrs387907175
hgdprs387907175
ensemblrs387907175
gopubmedrs387907175
geneviewrs387907175
scholarrs387907175
googlers387907175
pharmgkbrs387907175
gwascentralrs387907175
openSNPrs387907175
23andMers387907175
23andMe allrs387907175
SNP Nexus

SNPshotrs387907175
SNPdbers387907175
MSV3drs387907175
GWAS Ctlgrs387907175
Max Magnitude0
ClinVar
Risk rs387907175(A;A)
Alt rs387907175(A;A)
Reference rs387907175(G;G)
Significance Pathogenic
Disease Microspherophakia
Variation info
Gene LTBP2
CLNDBN Microspherophakia
Reversed 1
HGVS NC_000014.8:g.74971742C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024328.3,