Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1009298200
rs1009298200
ALG1
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057520063
rs1057520063
GLI3
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		CA 0.700 CausalMutation CLINVAR

dbSNP: rs1064795760
rs1064795760
BICD2
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554208945
rs1554208945
ZNF292
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554333853
rs1554333853
CDK13
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs1554846212
rs1554846212
KAT6B ; DUPD1
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555452127
rs1555452127
ALG1
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555939456
rs1555939456
RPS6KA3
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1561273261
rs1561273261
KIF2A ; DIMT1
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs369160589
rs369160589
ALG1
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
dbSNP: rs770374710
rs770374710
MAGEL2
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs794727774
rs794727774
FUCA1
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs797045412
rs797045412
BICD2
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		A 0.700 GeneticVariation CLINVAR