Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518817
rs1057518817
NPR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519335
rs1057519335
NPR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs201037487
rs201037487
FAM98C
T 0.700 GeneticVariation CLINVAR

dbSNP: rs754279998
rs754279998
MKS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs757744435
rs757744435
NPR2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs786205567
rs786205567
IFT122
C 0.700 CausalMutation CLINVAR

dbSNP: rs886039795
rs886039795
TMEM256 ; TMEM256-PLSCR3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886039814
rs886039814
WDR19
G 0.700 GeneticVariation CLINVAR

dbSNP: rs118203918
rs118203918
CILK1
0.010 GeneticVariation BEFREE Ick R272Q knock-in transgenic mouse model not only recapitulated major ECO skeletal defects such as short limbs and polydactyly but also revealed a deformed spine with defective intervertebral disk. 29098359

2018
dbSNP: rs786201032
rs786201032
IFITM5
0.010 GeneticVariation BEFREE While the patient with the p.Ser40Leu mutation had none of the typical signs of OI type V and was diagnosed with limb shortening at prenatal stages, the patient with the c.-14C>T mutation developed hyperplastic calluses and had calcification of the forearm interosseous membrane. 24478195

2014