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rs3214759

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;C) 1.5 probably actually benign, but one report links to cataracts
(C;C) 0 common in clinvar


Make rs3214759(-;-)
ReferenceGRCh38 38.1/142
Chromosome2
Position208146054
GeneCRYGB, LOC100507443
is asnp
is mentioned by
dbSNPrs3214759
ebirs3214759
HLIrs3214759
Exacrs3214759
Varsomers3214759
Maprs3214759
PheGenIrs3214759
hapmaprs3214759
1000 genomesrs3214759
hgdprs3214759
ensemblrs3214759
gopubmedrs3214759
geneviewrs3214759
scholarrs3214759
googlers3214759
pharmgkbrs3214759
gwascentralrs3214759
openSNPrs3214759
23andMers3214759
23andMe allrs3214759
SNP Nexus

SNPshotrs3214759
SNPdbers3214759
MSV3drs3214759
GWAS Ctlgrs3214759
Max Magnitude1.5

aka c.10-38delG

Although the minor (deletion) allele is reported in ClinVar as pathogenic in heterozygous form for a form of cataracts known as Cataract 39 based on [PMID 23288985OA-icon.png], the allele frequency in dbSNP for the "-" allele is around 10%, which may be inconsistent with it being a pathogenic mutation.


ClinVar
Risk rs3214759(;)
Alt rs3214759(;)
Reference rs3214759(C;C)
Significance Pathogenic
Disease Cataract 39
Variation info
Gene LOC100507443 CRYGB
CLNDBN Cataract 39, multiple types
Reversed 0
HGVS NC_000002.11:g.209010778delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000034855.33,