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: rs754081635
rs754081635
1.000 0.040 14 95113166 stop gained G/A;C snv 4.0E-06
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
0.700 1.000 3 2009 2011
dbSNP: rs754081635
rs754081635
1.000 0.040 14 95113166 stop gained G/A;C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0