Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1243762658
rs1243762658
TENM3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554110735
rs1554110735
TFAP2A
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554558365
rs1554558365
TMEM67
AATGAAT 0.700 GeneticVariation CLINVAR

dbSNP: rs1554641549
rs1554641549
PUF60 ; SCRIB
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555740394
rs1555740394
PRR12
CCCCACCA 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
PRR12
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555741826
rs1555741826
PRR12
G 0.700 CausalMutation CLINVAR

dbSNP: rs267607093
rs267607093
SRD5A3
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
T 0.700 CausalMutation CLINVAR

dbSNP: rs755000701
rs755000701
TENM3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs765468645
rs765468645
TMEM67
T 0.700 CausalMutation CLINVAR

dbSNP: rs74315439
rs74315439
CRYAA ; LOC107987300
0.010 GeneticVariation BEFREE To our knowledge, this is the first case to date in which an Arg116Cys mutation in the CRYAA gene was associated with nuclear cataract and iris coloboma. 17296897

2007