Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs180177135
rs180177135
PALB2
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		G 0.700 CausalMutation CLINVAR

dbSNP: rs199469465
rs199469465
SRCAP
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		T 0.700 CausalMutation CLINVAR

dbSNP: rs201217593
rs201217593
DMD
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397507520
rs397507520
PTPN11
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		C 0.700 CausalMutation CLINVAR

dbSNP: rs397514698
rs397514698
GNAQ
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		T 0.700 CausalMutation CLINVAR

dbSNP: rs786200952
rs786200952
KAT6A
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777

2015
dbSNP: rs794727774
rs794727774
FUCA1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		T 0.700 CausalMutation CLINVAR

dbSNP: rs796052505
rs796052505
GABRG2
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		A 0.700 CausalMutation CLINVAR

dbSNP: rs879253753
rs879253753
ANKRD11
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		A 0.700 CausalMutation CLINVAR

dbSNP: rs886041125
rs886041125
ANKRD11
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		G 0.700 GeneticVariation CLINVAR