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: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.860 1.000 10 2009 2016
dbSNP: rs944289
rs944289 		16 0.742 0.200 14 36180040 upstream gene variant C/T snv 0.45 0.850 1.000 6 2009 2015
dbSNP: rs116909374
rs116909374 		11 0.776 0.120 14 36269155 regulatory region variant C/T snv 2.3E-02 0.840 0.800 5 2012 2017
dbSNP: rs2439302
rs2439302
NRG1
9 0.776 0.200 8 32574851 intron variant G/C snv 0.54 0.830 1.000 3 2012 2015
dbSNP: rs966423
rs966423
DIRC3
11 0.776 0.200 2 217445617 intron variant C/G;T snv 0.820 1.000 2 2012 2013
dbSNP: rs1588635
rs1588635
PTCSC2
2 1.000 0.080 9 97775520 intron variant A/C snv 0.72 0.800 1.000 2 2010 2017
dbSNP: rs925489
rs925489
PTCSC2
6 0.882 0.080 9 97784318 intron variant C/T snv 0.71 0.800 1.000 2 2010 2018
dbSNP: rs6759952
rs6759952
DIRC3
2 1.000 0.080 2 217406996 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs1867277
rs1867277
FOXE1 ; PTCSC2
10 0.776 0.160 9 97853632 5 prime UTR variant A/G snv 0.63 0.750 1.000 6 2009 2015
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.720 1.000 3 2016 2019
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.710 1.000 4 2001 2018
dbSNP: rs7850258
rs7850258
PTCSC2
6 0.827 0.200 9 97786731 intron variant A/G snv 0.72 0.710 1.000 3 2010 2015
dbSNP: rs1443434
rs1443434
FOXE1
4 0.851 0.080 9 97855197 3 prime UTR variant G/T snv 0.63 0.710 1.000 2 2009 2015
dbSNP: rs907580
rs907580 		4 0.851 0.080 9 97860315 downstream gene variant T/A;C;G snv 0.710 1.000 2 2009 2015
dbSNP: rs7037324
rs7037324
LOC112268051
3 0.882 0.080 9 97896036 regulatory region variant A/G snv 0.71 0.710 1.000 1 2015 2015
dbSNP: rs10759944
rs10759944
PTCSC2
4 0.925 0.080 9 97794690 intron variant A/G snv 0.72 0.700 1.000 3 2009 2013
dbSNP: rs925487
rs925487 		2 0.925 0.080 9 97874116 regulatory region variant C/A;T snv 0.700 1.000 2 2009 2013
dbSNP: rs10122541
rs10122541 		1 1.000 0.080 9 97865986 intergenic variant G/A snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs10983700
rs10983700
PTCSC2
2 1.000 0.080 9 97775173 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs10984103
rs10984103 		2 0.925 0.080 9 97876993 TF binding site variant A/C snv 0.68 0.700 1.000 1 2009 2009
dbSNP: rs11693806
rs11693806
DIRC3
2 0.925 0.120 2 217427435 non coding transcript exon variant C/A;G snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs12129938
rs12129938
PCNX2
1 1.000 0.080 1 233276815 intron variant A/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs12348691
rs12348691
PTCSC2
2 0.925 0.120 9 97846400 intron variant G/A snv 0.63 0.700 1.000 1 2013 2013
dbSNP: rs1443435
rs1443435
FOXE1
1 1.000 0.080 9 97855301 3 prime UTR variant T/C snv 0.63 0.700 1.000 1 2013 2013
dbSNP: rs1443438
rs1443438
PTCSC2
8 0.827 0.080 9 97787746 intron variant T/A;C snv 0.700 1.000 1 2013 2013