SF3B4, splicing factor 3b subunit 4, 10262

N. diseases: 110; N. variants: 22
Disease: Nager syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045127
rs797045127
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
CUI: C0265245
Disease:
Nager syndrome 		TCATACCC 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012