Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041125
rs886041125
ANKRD11
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		G 0.700 GeneticVariation CLINVAR

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

dbSNP: rs1569525894
rs1569525894
SLC9A6
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1560092224
rs1560092224
ZBTB20
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1559155954
rs1559155954
OBSL1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		CA 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1556009247
rs1556009247
HDAC8
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555429629
rs1555429629
RAD51
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555380716
rs1555380716
SLC12A6
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		GC 0.700 GeneticVariation CLINVAR

dbSNP: rs1554888939
rs1554888939
EHMT1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554603293
rs1554603293
CHD7
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554333853
rs1554333853
CDK13
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		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: rs1553621496
rs1553621496
UNC80
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1425998598
rs1425998598
BPTF
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		A 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs1334099693
rs1334099693
SOX4
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772

2019
dbSNP: rs1064795559
rs1064795559
MORC2
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
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: rs796052505
rs796052505
GABRG2
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		A 0.700 CausalMutation CLINVAR

dbSNP: rs794727774
rs794727774
FUCA1
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: rs397517148
rs397517148
SOS1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		T 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: rs397507520
rs397507520
PTPN11
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		C 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