Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555639076
rs1555639076
BPTF
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		G 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017