ASXL3, ASXL transcriptional regulator 3, 80816

N. diseases: 77; N. variants: 22
Disease: Thin lips ×
Source: CLINVAR ×
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: rs1555743003
rs1555743003 		0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0578038
Disease: Thin lips
Thin lips 		0.700 1.000 1 2016 2016