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: rs875989784
rs875989784
0.925 0.080 14 95096510 frameshift variant AAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 2 2014 2014
dbSNP: rs875989784
rs875989784
0.925 0.080 14 95096510 frameshift variant AAGA/- delins
CUI: C1266144
Disease: Pleuropulmonary blastoma
Pleuropulmonary blastoma
0.700 0
dbSNP: rs875989784
rs875989784
0.925 0.080 14 95096510 frameshift variant AAGA/- delins
CUI: C0205898
Disease: pineoblastoma
pineoblastoma
0.700 0