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: rs878855246
rs878855246
1.000 0.040 14 95113106 stop gained G/A snv
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
0.700 1.000 1 2014 2014
dbSNP: rs878855246
rs878855246
1.000 0.040 14 95113106 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 1 2014 2014