rs1425998598, BPTF

N. diseases: 19
Disease: Overriding toe ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Overriding toe
CUI: C0920299
Disease: Overriding toe
0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017