Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs139751598
rs139751598
PYCR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555350397
rs1555350397
OTX2
CC 0.700 GeneticVariation CLINVAR

dbSNP: rs1569301036
rs1569301036
TAF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
FOXG1
A 0.700 CausalMutation CLINVAR