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: 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: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2066827
rs2066827
CDKN1B ; GPR19
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.010 1.000 1 2016 2016
dbSNP: rs2069837
rs2069837
IL6 ; IL6-AS1
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2286742
rs2286742
HABP2
2 1.000 0.080 10 113580733 intron variant G/A;C snv 0.57; 8.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2352326
rs2352326 		1 1.000 0.080 X 91591642 intergenic variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 < 0.001 1 2018 2018
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: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2015 2015
dbSNP: rs28933406
rs28933406
HRAS ; LRRC56
27 0.667 0.480 11 533875 missense variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs28937584
rs28937584
TSHR ; LOC101928462
4 0.925 0.080 14 81143955 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs3027898
rs3027898
IRAK1
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 1.000 1 2020 2020
dbSNP: rs368187
rs368187
LOC105370452
2 0.925 0.080 14 36063370 non coding transcript exon variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs377767394
rs377767394
RET
2 0.925 0.080 10 43113603 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2014 2014
dbSNP: rs3795299
rs3795299
IL22RA1
2 0.925 0.200 1 24120978 missense variant G/A;C;T snv 9.6E-05; 0.42; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4733616
rs4733616 		3 0.882 0.120 8 127649850 intergenic variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs609429
rs609429
ATM ; C11orf65
1 1.000 0.080 11 108325782 intron variant G/C;T snv 0.010 1.000 1 2009 2009
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: rs730881689
rs730881689
CHEK2
1 1.000 0.080 22 28696951 missense variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs747894155
rs747894155
ADRA1A
1 1.000 0.080 8 26770171 missense variant C/A;T snv 4.6E-06 0.010 1.000 1 2016 2016
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