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: 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 2005 2018
dbSNP: rs11554273
rs11554273
GNAS
22 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs730882028
rs730882028
TP53
3 1.000 0.120 17 7670709 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs766786605
rs766786605
TP53
2 1.000 0.120 17 7670643 missense variant C/G;T snv 0.010 1.000 1 2018 2018