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: rs121912655
rs121912655
TP53
15 0.724 0.400 17 7674238 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121912658
rs121912658
TP53
2 0.925 0.200 17 7676011 stop gained T/A;C;G snv 0.700 0
dbSNP: rs28934574
rs28934574
TP53
31 0.658 0.440 17 7673776 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs28934575
rs28934575
TP53
37 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 0
dbSNP: rs730882018
rs730882018
TP53
5 0.851 0.320 17 7676153 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.050 1.000 5 2011 2019
dbSNP: rs55819519
rs55819519
TP53
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 < 0.001 1 2008 2008
dbSNP: rs780936436
rs780936436
POT1
2 0.925 0.240 7 124863547 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017