Disease: Clinodactyly of the 5th finger ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1425998598
rs1425998598
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1850049
Disease:
Clinodactyly of the 5th finger 		A 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017