Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs904200599
rs904200599
TASP1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886041936
rs886041936
HDAC8
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886041300
rs886041300
KCNH1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs886041125
rs886041125
ANKRD11
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886041097
rs886041097
NAA15
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886041095
rs886041095
GRIN2B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs886041045
rs886041045
SMARCA2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886040958
rs886040958
ARID1B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886039814
rs886039814
WDR19
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853165
rs878853165
MAST1 ; HOOK2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs875989802
rs875989802
DDX3X
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312742
rs869312742
SMG9
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474

2016
dbSNP: rs869312741
rs869312741
SMG9
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474

2016
dbSNP: rs869312696
rs869312696
ASXL3
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312689
rs869312689
ZBTB18
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs869312686
rs869312686
HCFC1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 CausalMutation CLINVAR

dbSNP: rs869312681
rs869312681
GRIN2A
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs867593888
rs867593888
MYH9
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs863225094
rs863225094
PPP2R1A
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs80338758
rs80338758
MED12
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs797045412
rs797045412
BICD2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs786205567
rs786205567
IFT122
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 CausalMutation CLINVAR

dbSNP: rs782661984
rs782661984
POLR3GL
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs776291104
rs776291104
MED25
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 GeneticVariation CLINVAR