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: rs2735943
rs2735943
TERT
1 1.000 0.080 5 1295089 upstream gene variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2019 2019
dbSNP: rs33954691
rs33954691
TERT
2 1.000 0.080 5 1255405 synonymous variant G/A snv 0.13 9.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs2234001
rs2234001
SSBP1 ; TAS2R4
1 1.000 0.080 7 141778774 missense variant G/C snv 0.52 0.47 0.010 1.000 1 2018 2018
dbSNP: rs2270009
rs2270009
SSBP1 ; TAS2R3
1 1.000 0.080 7 141764965 synonymous variant C/T snv 0.48 0.41 0.010 1.000 1 2018 2018
dbSNP: rs149019598
rs149019598
SRRM2
1 1.000 0.080 16 2761565 missense variant C/T snv 5.7E-04 7.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs1410727652
rs1410727652
SLC22A3
2 1.000 0.080 6 160348669 missense variant C/T snv 7.0E-06 0.020 1.000 2 2018 2018
dbSNP: rs6112
rs6112
SERPINA5
1 1.000 0.080 14 94587839 synonymous variant T/C snv 0.60 0.71 0.010 1.000 1 2013 2013
dbSNP: rs6115
rs6115
SERPINA5
1 1.000 0.080 14 94587553 missense variant G/A;T snv 0.60 0.010 1.000 1 2013 2013
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.030 1.000 3 2015 2018
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.030 1.000 3 2005 2015
dbSNP: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.030 1.000 3 2009 2012
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.020 1.000 2 2004 2005
dbSNP: rs1800861
rs1800861
RET
3 0.882 0.160 10 43118395 synonymous variant G/A;T snv 0.74 0.010 1.000 1 2015 2015
dbSNP: rs1800863
rs1800863
RET
4 0.851 0.160 10 43120185 synonymous variant C/A;G snv 1.6E-05; 0.21 0.010 1.000 1 2015 2015
dbSNP: rs377767394
rs377767394
RET
2 0.925 0.080 10 43113603 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs75030001
rs75030001
RET
7 0.807 0.160 10 43118458 missense variant G/C;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs75234356
rs75234356
RET
14 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs75996173
rs75996173
RET
21 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs767654905
rs767654905
RET
1 1.000 0.080 10 43105012 missense variant T/C snv 4.5E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1248131654
rs1248131654
RBMS1
4 0.851 0.080 2 160367217 missense variant G/A snv 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs4987206
rs4987206
RAD52
4 0.851 0.080 12 916703 missense variant G/C snv 2.4E-03 9.6E-03 0.010 1.000 1 2008 2008
dbSNP: rs1566734
rs1566734
PTPRJ
10 0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 0.010 1.000 1 2010 2010
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0