Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786201044
rs786201044
PTEN
6 0.827 0.200 10 87933165 missense variant T/C snv 0.700 0
dbSNP: rs864309495
rs864309495
TP53
4 0.882 0.160 17 7674895 frameshift variant AA/-;A delins 0.700 0