Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1187142382
rs1187142382
CPLANE1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1228082731
rs1228082731
CPLANE1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1242532564
rs1242532564
CPLANE1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1327245073
rs1327245073
CPLANE1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1345413118
rs1345413118
CPLANE1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1381740657
rs1381740657
CPLANE1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1482303814
rs1482303814
CPLANE1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554050342
rs1554050342
CPLANE1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554068790
rs1554068790
CPLANE1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554083251
rs1554083251
CPLANE1
AT 0.700 CausalMutation CLINVAR

dbSNP: rs1561584225
rs1561584225
CPLANE1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1561655920
rs1561655920
CPLANE1
CT 0.700 CausalMutation CLINVAR

dbSNP: rs367543062
rs367543062
CPLANE1
T 0.700 CausalMutation CLINVAR

dbSNP: rs367543063
rs367543063
CPLANE1
A 0.700 CausalMutation CLINVAR

dbSNP: rs367543064
rs367543064
CPLANE1
T 0.700 CausalMutation CLINVAR

dbSNP: rs375009168
rs375009168
CPLANE1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs755097302
rs755097302
CPLANE1
A 0.700 CausalMutation CLINVAR

dbSNP: rs775263897
rs775263897
CPLANE1
G 0.700 CausalMutation CLINVAR

dbSNP: rs957588958
rs957588958
CPLANE1
A 0.700 CausalMutation CLINVAR

dbSNP: rs149170427
rs149170427
CPLANE1
A 0.700 GeneticVariation CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751

2014
dbSNP: rs149170427
rs149170427
CPLANE1
A 0.700 CausalMutation CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751

2014
dbSNP: rs606231259
rs606231259
CPLANE1
A 0.700 CausalMutation CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751

2014
dbSNP: rs1554084360
rs1554084360
CPLANE1
C 0.700 CausalMutation CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670

2018
dbSNP: rs200444162
rs200444162
CPLANE1
T 0.700 GeneticVariation CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670

2018
dbSNP: rs606231259
rs606231259
CPLANE1
A 0.700 CausalMutation CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670

2018