UNC13D, unc-13 homolog D, 201294

N. diseases: 48; N. variants: 26
Disease: Histiocytosis haematophagic ×
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: rs1555600214
rs1555600214 		0.925 0.040 17 75830577 splice donor variant C/T snv
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		0.700 0
dbSNP: rs1555601863
rs1555601863 		0.925 0.040 17 75836430 splice acceptor variant C/T snv
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic 		0.700 0