Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1014959895
rs1014959895
PRMT7
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518849
rs1057518849
EHMT1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518921
rs1057518921
MED12
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519521
rs1057519521
EBF3
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1064795104
rs1064795104
EXOC6B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014
dbSNP: rs1064795104
rs1064795104
EXOC6B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013
dbSNP: rs1131692272
rs1131692272
AFF3
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1135402758
rs1135402758
NUP214
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1135402760
rs1135402760
BRSK2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs1135402761
rs1135402761
SYT1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
TMEM94
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs1189909394
rs1189909394
KCNK4 ; KCNK4-TEX40
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 CausalMutation CLINVAR

dbSNP: rs121434616
rs121434616
CUL4B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1223073957
rs1223073957
MED25
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1251713297
rs1251713297
PRMT7
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 CausalMutation CLINVAR

dbSNP: rs138632121
rs138632121
HCFC1R1 ; THOC6
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs147030232
rs147030232
BBS2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs147484110
rs147484110
CSTB
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		G 0.700 CausalMutation CLINVAR

dbSNP: rs149830411
rs149830411
KANSL1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1553196096
rs1553196096
CDC42
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1553196101
rs1553196101
CDC42
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 CausalMutation CLINVAR