Source: ALL
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: rs121918544
rs121918544
TINF2
7 0.827 0.200 14 24240635 missense variant C/T snv 0.810 1.000 1 2008 2008
dbSNP: rs1060499576
rs1060499576
TINF2
2 0.925 0.080 14 24242252 stop gained G/T snv 0.700 0
dbSNP: rs121918543
rs121918543
TINF2
3 0.882 0.200 14 24240642 stop gained T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs199701877
rs199701877
TERT
2 0.925 0.200 5 1294048 missense variant C/T snv 2.8E-04 1.7E-04 0.010 1.000 1 2008 2008