Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853027
rs137853027
DYNC2H1
G 0.700 CausalMutation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549

2018
dbSNP: rs397514637
rs397514637
DYNC2H1
T 0.700 CausalMutation CLINVAR Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549

2018
dbSNP: rs1555531363
rs1555531363
KIAA0753
T 0.700 CausalMutation CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412

2017
dbSNP: rs181011657
rs181011657
DYNC2H1
T 0.700 CausalMutation CLINVAR Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. 27925158

2017
dbSNP: rs746068882
rs746068882
KIAA0753
A 0.700 CausalMutation CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412

2017
dbSNP: rs762771340
rs762771340
KIAA0753
A 0.700 CausalMutation CLINVAR Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 29138412

2017
dbSNP: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
A 0.700 CausalMutation CLINVAR A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116

2014
dbSNP: rs137853027
rs137853027
DYNC2H1
G 0.700 CausalMutation CLINVAR Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. 23339108

2013
dbSNP: rs137853027
rs137853027
DYNC2H1
G 0.700 CausalMutation CLINVAR Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. 23456818

2013
dbSNP: rs1555096711
rs1555096711
DYNC2H1
A 0.700 GeneticVariation CLINVAR Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. 23339108

2013
dbSNP: rs1565371538
rs1565371538
DYNC2H1
A 0.700 GeneticVariation CLINVAR Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. 23339108

2013
dbSNP: rs397514637
rs397514637
DYNC2H1
T 0.700 CausalMutation CLINVAR Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. 23456818

2013
dbSNP: rs397514637
rs397514637
DYNC2H1
T 0.700 CausalMutation CLINVAR NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 22499340

2012
dbSNP: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
A 0.700 CausalMutation CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341

2011
dbSNP: rs1553508246
rs1553508246
TTC21B
C 0.700 GeneticVariation CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341

2011
dbSNP: rs137853027
rs137853027
DYNC2H1
G 0.700 CausalMutation CLINVAR DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 19442771

2009
dbSNP: rs1178331074
rs1178331074
DYNC2H1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1191056931
rs1191056931
WDR19
A 0.700 CausalMutation CLINVAR

dbSNP: rs1196317554
rs1196317554
DYNC2H1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1215108056
rs1215108056
WDR19
C 0.700 CausalMutation CLINVAR

dbSNP: rs1218198013
rs1218198013
DYNC2H1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1223907858
rs1223907858
DYNC2H1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1236962991
rs1236962991
LBR
T 0.700 CausalMutation CLINVAR

dbSNP: rs1260978141
rs1260978141
DYNC2H1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1309577378
rs1309577378
DYNC2H1
A 0.700 CausalMutation CLINVAR