Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs765059994
rs765059994
1.000 0.040 14 95099779 splice donor variant C/A;G snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
0.700 1.000 2 2009 2011
dbSNP: rs765059994
rs765059994
1.000 0.040 14 95099779 splice donor variant C/A;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0