Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555639076
rs1555639076
BPTF
G 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs1553546045
rs1553546045
PTH2R
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80356474
rs80356474
SCN9A ; SCN1A-AS1
G 0.700 GeneticVariation CLINVAR