Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1425998598
rs1425998598
BPTF
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: rs1555649483
rs1555649483
BPTF
A 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs1555652383
rs1555652383
BPTF
C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs782736894
rs782736894
BPTF
G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs1555743003
rs1555743003
ASXL3
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1057519324
rs1057519324
NPR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519334
rs1057519334
NPR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1064795559
rs1064795559
MORC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918487
rs121918487
FGFR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1331463984
rs1331463984
TRAF7
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554317931
rs1554317931
GLI3
A 0.700 CausalMutation CLINVAR

dbSNP: rs796052505
rs796052505
GABRG2
A 0.700 CausalMutation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
A 0.700 CausalMutation CLINVAR