SF3B4, splicing factor 3b subunit 4, 10262

N. diseases: 110; N. variants: 22
Disease: Dysmorphic features ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907186
rs387907186 		0.925 0.120 1 149923670 frameshift variant G/-;GG delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2007 2016