Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561964103
rs1561964103
TFAP2B
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567368243
rs1567368243
SIN3A
GT 0.700 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019
dbSNP: rs180177135
rs180177135
PALB2
G 0.700 CausalMutation CLINVAR

dbSNP: rs199469465
rs199469465
SRCAP
T 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs387907141
rs387907141
ARID1B
T 0.700 CausalMutation CLINVAR

dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR

dbSNP: rs397514698
rs397514698
GNAQ
T 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs786200952
rs786200952
KAT6A
CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777

2015
dbSNP: rs794727774
rs794727774
FUCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs796052505
rs796052505
GABRG2
A 0.700 CausalMutation CLINVAR

dbSNP: rs879253753
rs879253753
ANKRD11
CT 0.700 CausalMutation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
A 0.700 CausalMutation CLINVAR