Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773722162
rs773722162
CELSR2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		TGAGGAGGAAGAA 0.700 GeneticVariation CLINVAR

dbSNP: rs769235753
rs769235753
SLC17A5
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs753520553
rs753520553
NAGLU
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		G 0.700 CausalMutation CLINVAR

dbSNP: rs752738546
rs752738546
DDX3X
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs730882220
rs730882220
FAM20C
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs730882218
rs730882218
MGAT2 ; RPL36AL
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs730882215
rs730882215
WWOX
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs730882202
rs730882202
CACNA1G
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs730882201
rs730882201
ARL14EP
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs727504031
rs727504031
NDP ; NDP-AS1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs672601370
rs672601370
KIF1A
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs61752717
rs61752717
MEFV
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587784000
rs587784000
NIPBL
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs531630376
rs531630376
PCDH12
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 GeneticVariation CLINVAR Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466

2019
dbSNP: rs483352897
rs483352897
NAGLU
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
RIT1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		G 0.700 CausalMutation CLINVAR

dbSNP: rs397509426
rs397509426
GMPPB
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs397507542
rs397507542
PTPN11
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387906692
rs387906692
PRKAR1A ; FAM20A
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs376103091
rs376103091
EARS2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs374993554
rs374993554
TAF6
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs369634007
rs369634007
TMEM87B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		G 0.700 GeneticVariation CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590

2016
dbSNP: rs368313959
rs368313959
OTUD6B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		T 0.700 CausalMutation CLINVAR