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: rs10136427
rs10136427
LOC105370572
2 0.925 14 75513546 intergenic variant C/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs1220597
rs1220597
SPATA13
2 0.925 13 24243875 intron variant C/T snv 0.51 0.010 1.000 1 2014 2014
dbSNP: rs1302723597
rs1302723597
GGCT
1 1.000 7 30497778 missense variant A/C;G snv 8.1E-06; 8.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs13184587
rs13184587
ARSB
2 0.925 5 78910960 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs16962916
rs16962916 		2 0.925 16 13806476 intergenic variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs17739370
rs17739370 		2 0.925 4 177374275 intergenic variant C/T snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs2048722
rs2048722
TPO
2 0.925 2 1492028 intron variant A/G snv 0.51 0.010 1.000 1 2013 2013
dbSNP: rs2132572
rs2132572
IGFBP3
3 1.000 7 45921946 upstream gene variant T/C snv 0.79 0.010 1.000 1 2012 2012
dbSNP: rs2480258
rs2480258
CYP2E1
1 1.000 10 133538596 intron variant T/C snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs3136166
rs3136166
ERCC4
2 0.925 16 13938236 intron variant T/G snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs34081947
rs34081947
LINC00609 ; LOC105370451
1 1.000 14 36090325 intron variant C/T snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs371428527
rs371428527
PIK3CB
2 0.925 3 138737869 missense variant T/C;G snv 1.2E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs7267944
rs7267944 		2 0.925 20 39318791 intergenic variant T/C snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs7689099
rs7689099
NEIL3
2 0.925 4 177335759 missense variant C/A;G;T snv 4.2E-06; 0.11; 1.7E-05 0.010 1.000 1 2016 2016
dbSNP: rs9400239
rs9400239
FOXO3
3 1.000 6 108656460 5 prime UTR variant T/C snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs3828599
rs3828599
GPX3 ; LOC105378228
5 0.882 0.040 5 151022235 intron variant A/G snv 0.67 0.010 1.000 1 2009 2009
dbSNP: rs10808556
rs10808556
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
2 0.925 0.080 8 127400902 non coding transcript exon variant C/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs11175834
rs11175834
LOC100507065 ; LINC02454
2 0.925 0.080 12 65598856 intron variant C/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs12990503
rs12990503
DIRC3
2 0.925 0.080 2 217429494 intron variant C/G snv 0.64 0.700 1.000 1 2017 2017
dbSNP: rs1800860
rs1800860
RET
3 0.882 0.080 10 43111239 missense variant A/G snv 0.70 0.74 0.010 1.000 1 2017 2017
dbSNP: rs1874564
rs1874564
LOC105377294 ; LOC107986291
2 0.925 0.080 4 76936952 intergenic variant G/A snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs4649295
rs4649295
PCNX2
2 0.925 0.080 1 233280792 intron variant T/C snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs4915076
rs4915076
VAV3
3 0.882 0.080 1 107816883 intron variant T/C snv 9.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs6996585
rs6996585
NRG1
2 0.925 0.080 8 32543285 intron variant A/G snv 0.37 0.700 1.000 1 2017 2017
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 0.010 1.000 1 2015 2015