Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4647924
rs4647924
0.710 GeneticVariation BEFREE We compare the clinical characteristics of previously reported cases of this unique Pro250Arg mutation with those of two additional families and suggest that this syndrome with a unique mutational basis be designated coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene, to emphasize the distinctive findings which may be present even in the absence of coronal craniosynostosis. 9600744

1998

dbSNP: rs4647924
rs4647924
G 0.710 CausalMutation CLINVAR

dbSNP: rs1567499068
rs1567499068
A 0.700 CausalMutation CLINVAR SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319

2019

dbSNP: rs1014959895
rs1014959895
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894396
rs104894396
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518972
rs1057518972
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519324
rs1057519324
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057520063
rs1057520063
CA 0.700 CausalMutation CLINVAR

dbSNP: rs1251713297
rs1251713297
A 0.700 CausalMutation CLINVAR

dbSNP: rs137853027
rs137853027
G 0.700 GeneticVariation CLINVAR

dbSNP: rs137854539
rs137854539
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1400419650
rs1400419650
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553154130
rs1553154130
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554888939
rs1554888939
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555154946
rs1555154946
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555386022
rs1555386022
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555528356
rs1555528356
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1556165162
rs1556165162
T 0.700 CausalMutation CLINVAR

dbSNP: rs1565311145
rs1565311145
A 0.700 CausalMutation CLINVAR

dbSNP: rs1565317399
rs1565317399
T 0.700 CausalMutation CLINVAR

dbSNP: rs1567690011
rs1567690011
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567721991
rs1567721991
TGCTCTCCG 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
T 0.700 CausalMutation CLINVAR

dbSNP: rs371011047
rs371011047
T 0.700 CausalMutation CLINVAR