Gene: WDR36 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34595252
rs34595252
WDR36
0.020 GeneticVariation BEFREE A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant. 16876519

2006
dbSNP: rs34595252
rs34595252
WDR36
0.020 GeneticVariation BEFREE Overall, four mutations (N355S, A449T, R529Q and D658G) were identified in 17 (5.02-6.92%) unrelated POAG subjects, 11 with high-pressure and six with low-pressure glaucoma. 15677485

2005
dbSNP: rs10038177
rs10038177
WDR36
0.010 GeneticVariation BEFREE First, a novel variation c.460-650A>G was found in our study which might cause premature termination of splicing of the conserved domain in <i>WDR36</i>; second, c.1494+1111G>T (rs13178997) had significantly different frequency in our JOAG patients compared to the reference frequency on NCBI; third, a variation c.710+30C>T (rs10038177) was found in our study, which had already been reported to be related to high-pressure glaucoma. 29104481

2017
dbSNP: rs13178997
rs13178997
WDR36
0.010 GeneticVariation BEFREE First, a novel variation c.460-650A>G was found in our study which might cause premature termination of splicing of the conserved domain in <i>WDR36</i>; second, c.1494+1111G>T (rs13178997) had significantly different frequency in our JOAG patients compared to the reference frequency on NCBI; third, a variation c.710+30C>T (rs10038177) was found in our study, which had already been reported to be related to high-pressure glaucoma. 29104481

2017
dbSNP: rs1438561194
rs1438561194
WDR36
0.010 GeneticVariation BEFREE Seven out of one hundred fifteen (6.1%) individuals had at least one pathogenic or hypomorphic CYP1B1 allele associated with GS, POAG (5) and PXG phenotypes, including two novel sequence variations (p.Ser6Gly, p.Val243Leu).No pathogenic MYOC change was detected. 22004014

2012
dbSNP: rs116529882
rs116529882
WDR36
0.010 GeneticVariation BEFREE Overall, four mutations (N355S, A449T, R529Q and D658G) were identified in 17 (5.02-6.92%) unrelated POAG subjects, 11 with high-pressure and six with low-pressure glaucoma. 15677485

2005
dbSNP: rs35703638
rs35703638
WDR36
0.010 GeneticVariation BEFREE Overall, four mutations (N355S, A449T, R529Q and D658G) were identified in 17 (5.02-6.92%) unrelated POAG subjects, 11 with high-pressure and six with low-pressure glaucoma. 15677485

2005