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: rs966423
rs966423
DIRC3
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.020 1.000 2 2012 2013
dbSNP: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.060 1.000 6 2012 2016
dbSNP: rs944289
rs944289 		16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.050 1.000 5 2012 2015
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2018 2018
dbSNP: rs907580
rs907580 		4 0.851 0.080 9 97860315 downstream gene variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2014 2015
dbSNP: rs863224748
rs863224748
CHEK2
5 0.827 0.120 22 28734721 start lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 0.500 2 2009 2015
dbSNP: rs861530
rs861530
KLC1 ; XRCC3 ; LOC112268131
13 0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.010 1.000 1 2006 2006
dbSNP: rs78929565
rs78929565
CLOCK
3 0.882 0.080 4 55539035 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs786203472
rs786203472
CHEK2
5 0.827 0.120 22 28719414 start lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs7850258
rs7850258
PTCSC2
6 0.827 0.200 9 97786731 intron variant A/G snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs78201625
rs78201625
HABP2
4 0.851 0.080 10 113577182 missense variant C/T snv 2.4E-03 1.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs779791579
rs779791579
PTCH1
3 0.882 0.080 9 95508325 missense variant G/C snv 7.8E-04 6.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs778212685
rs778212685
CHEK2
8 0.827 0.120 22 28712015 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs776935407
rs776935407
SGSM3
6 0.851 0.080 22 40409261 missense variant T/A snv 4.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs768891111
rs768891111
KLC1 ; XRCC3
4 0.851 0.080 14 103699474 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs768827923
rs768827923
PIK3CD
6 0.851 0.080 1 9721816 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs763538721
rs763538721
HIF1A ; HIF1A-AS3
8 0.807 0.160 14 61740897 missense variant T/A snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.020 1.000 2 2015 2018
dbSNP: rs747463591
rs747463591
CCDC6
3 0.882 0.080 10 59906391 missense variant C/A;G;T snv 4.9E-06; 9.9E-06 0.010 1.000 1 2015 2015
dbSNP: rs71369530
rs71369530
FOXE1 ; PTCSC2
4 0.851 0.080 9 97854419 inframe insertion GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC delins 0.68 0.020 1.000 2 2014 2014
dbSNP: rs709399
rs709399
KLC1 ; XRCC3 ; LOC112268131
3 0.882 0.080 14 103701208 3 prime UTR variant G/A snv 0.59 0.61 0.010 1.000 1 2017 2017