Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516029
rs1057516029
TRIO
CUI: C3494422
Disease: Retrognathia
Retrognathia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516040
rs1057516040
NALCN
CUI: C3494422
Disease: Retrognathia
Retrognathia 		C 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516045
rs1057516045
LBR
CUI: C3494422
Disease: Retrognathia
Retrognathia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167291
rs1114167291
ANKRD11
CUI: C3494422
Disease: Retrognathia
Retrognathia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs137852981
rs137852981
ZEB2
CUI: C3494422
Disease: Retrognathia
Retrognathia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C3494422
Disease: Retrognathia
Retrognathia 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C3494422
Disease: Retrognathia
Retrognathia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1566911709
rs1566911709
FBN1
CUI: C3494422
Disease: Retrognathia
Retrognathia 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1569548274
rs1569548274
MECP2
CUI: C3494422
Disease: Retrognathia
Retrognathia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs763028380
rs763028380
ABCC8
CUI: C3494422
Disease: Retrognathia
Retrognathia 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
CUI: C3494422
Disease: Retrognathia
Retrognathia 		TG 0.700 CausalMutation CLINVAR