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: rs1057518903
rs1057518903
MEN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121908096
rs121908096
CYP27A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs148881970
rs148881970
NAGLU
G 0.700 CausalMutation CLINVAR

dbSNP: rs1557781252
rs1557781252
GATAD2B
A 0.700 CausalMutation CLINVAR

dbSNP: rs370244148
rs370244148
WNT2B
T 0.700 CausalMutation CLINVAR

dbSNP: rs555145190
rs555145190
NAGLU
T 0.700 CausalMutation CLINVAR

dbSNP: rs587777630
rs587777630
STAT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs886556800
rs886556800
CYP27A1
T 0.700 CausalMutation CLINVAR