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rs968566

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs968566(A;C)
Make rs968566(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position20142394
GeneGJA3
is asnp
is mentioned by
dbSNPrs968566
ebirs968566
HLIrs968566
Exacrs968566
Varsomers968566
Maprs968566
PheGenIrs968566
hapmaprs968566
1000 genomesrs968566
hgdprs968566
ensemblrs968566
gopubmedrs968566
geneviewrs968566
scholarrs968566
googlers968566
pharmgkbrs968566
gwascentralrs968566
openSNPrs968566
23andMers968566
23andMe allrs968566
SNP Nexus

SNPshotrs968566
SNPdbers968566
MSV3drs968566
GWAS Ctlgrs968566
GMAF0.01699
Max Magnitude0
Venter snp
Source plos
Gene GJA3
allele T
frequency
sift TOLERATED
HuRef 1103649163177
Disease Association Defects in GJA3 are the cause of zonular pulverulent cataract type 3 (CZP3) (MIM:601885). CZP3 is a form of autosomal dominant congenital cataract.



GET Evidence
GJA3-L299M
aa_change Leu299Met
aa_change_short L299M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.967916
summary