Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135401778
rs1135401778
C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017

dbSNP: rs587783070
rs587783070
T 0.700 CausalMutation CLINVAR Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. 25130867

2014

dbSNP: rs1057518802
rs1057518802
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064796765
rs1064796765
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1303044966
rs1303044966
C 0.700 CausalMutation CLINVAR

dbSNP: rs1339616347
rs1339616347
WRN
T 0.700 GeneticVariation CLINVAR

dbSNP: rs142285818
rs142285818
RHO
G 0.700 CausalMutation CLINVAR

dbSNP: rs1423415130
rs1423415130
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554781700
rs1554781700
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1568480054
rs1568480054
A 0.700 CausalMutation CLINVAR

dbSNP: rs727502810
rs727502810
TUB ; RIC3
T 0.700 CausalMutation CLINVAR

dbSNP: rs765919785
rs765919785
G 0.700 GeneticVariation CLINVAR

dbSNP: rs863225045
rs863225045
A 0.700 CausalMutation CLINVAR

dbSNP: rs1463326176
rs1463326176
0.060 GeneticVariation BEFREE This contact, at the P23T substitution site, relates to a genetic cataract and reveals at a molecular level the origin of the lowered and retrograde solubility of the protein. 31422822

2019

dbSNP: rs28931605
rs28931605
0.060 GeneticVariation BEFREE This contact, at the P23T substitution site, relates to a genetic cataract and reveals at a molecular level the origin of the lowered and retrograde solubility of the protein. 31422822

2019

dbSNP: rs1463326176
rs1463326176
0.060 GeneticVariation BEFREE Mutational analysis of CRYGD identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts. 26732753

2016

dbSNP: rs28931605
rs28931605
0.060 GeneticVariation BEFREE Mutational analysis of CRYGD identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts. 26732753

2016

dbSNP: rs1463326176
rs1463326176
0.060 GeneticVariation BEFREE Crystal structure of the cataract-causing P23T γD-crystallin mutant. 23670788

2013

dbSNP: rs28931605
rs28931605
0.060 GeneticVariation BEFREE Crystal structure of the cataract-causing P23T γD-crystallin mutant. 23670788

2013

dbSNP: rs1463326176
rs1463326176
0.060 GeneticVariation BEFREE The present study describes identification of p.Pro23Thr mutation in CRYGD for aculeiform type cataract in an ADCC family of Indian origin. 22669729

2012

dbSNP: rs28931605
rs28931605
0.060 GeneticVariation BEFREE The present study describes identification of p.Pro23Thr mutation in CRYGD for aculeiform type cataract in an ADCC family of Indian origin. 22669729

2012

dbSNP: rs1463326176
rs1463326176
0.060 GeneticVariation BEFREE Benedek, J. Pande, Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin, Biochemistry 44 (2005) 2491-2500] that the mutation dramatically lowers the solubility of P23T but the overall protein fold is maintained. 19275895

2009

dbSNP: rs28931605
rs28931605
0.060 GeneticVariation BEFREE Benedek, J. Pande, Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin, Biochemistry 44 (2005) 2491-2500] that the mutation dramatically lowers the solubility of P23T but the overall protein fold is maintained. 19275895

2009

dbSNP: rs1463326176
rs1463326176
0.060 GeneticVariation BEFREE Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin. 15709761

2005

dbSNP: rs28931605
rs28931605
0.060 GeneticVariation BEFREE Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin. 15709761

2005