Disease: Underdeveloped nasal alae ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555652383
rs1555652383
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1834055
Disease:
Underdeveloped nasal alae 		C 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
dbSNP: rs782736894
rs782736894
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1834055
Disease:
Underdeveloped nasal alae 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017