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rs387907342

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907342(-;-)
Make rs387907342(-;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position208145954
GeneCRYGB, LOC100507443
is asnp
is mentioned by
dbSNPrs387907342
dbSNP (classic)rs387907342
ClinGenrs387907342
ebirs387907342
HLIrs387907342
Exacrs387907342
Gnomadrs387907342
Varsomers387907342
LitVarrs387907342
Maprs387907342
PheGenIrs387907342
Biobankrs387907342
1000 genomesrs387907342
hgdprs387907342
ensemblrs387907342
geneviewrs387907342
scholarrs387907342
googlers387907342
pharmgkbrs387907342
gwascentralrs387907342
openSNPrs387907342
23andMers387907342
SNPshotrs387907342
SNPdbers387907342
MSV3drs387907342
GWAS Ctlgrs387907342
Max Magnitude0
ClinVar
Risk rs387907342(-;-)
Alt rs387907342(-;-)
Reference Rs387907342(C;C)
Significance Pathogenic
Disease Cataract 39
Variation info
Gene LOC100507443 CRYGB
CLNDBN Cataract 39, multiple types
Reversed 1
HGVS NC_000002.11:g.209010678delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000034854.27,