Disease: Small hand ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555639076
rs1555639076
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0575802
Disease:
Small hand 		G 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017