POU3F3, POU class 3 homeobox 3, 5455

N. diseases: 34; N. variants: 1
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: rs1553426462
rs1553426462 		1.000 2 104856496 inframe deletion AGCGGCGCATCAAGC/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1989 2017