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: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs1946519
rs1946519
IL18
4 0.851 0.120 11 112164784 intron variant A/C snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs360717
rs360717
IL18
4 0.851 0.080 11 112164002 5 prime UTR variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs360718
rs360718
IL18
5 0.827 0.120 11 112164016 5 prime UTR variant A/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs7028661
rs7028661
PTCSC2
4 0.882 0.080 9 97776188 intron variant A/G snv 0.72 0.010 1.000 1 2015 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: 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: 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: 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: rs786203472
rs786203472
CHEK2
5 0.827 0.120 22 28719414 start lost T/C snv 0.010 1.000 1 2015 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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2014 2018
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2014 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 0.667 3 2014 2015
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 0.667 3 2014 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: rs12508721
rs12508721
IL21-AS1
11 0.742 0.360 4 122623509 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs1297812518
rs1297812518
KLC1 ; XRCC3 ; LOC112268131
9 0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs13143866
rs13143866
IL21 ; IL21-AS1
4 0.851 0.200 4 122619603 intron variant G/A snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs1365943053
rs1365943053
PTCH1
3 0.882 0.080 9 95516630 missense variant C/T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2221903
rs2221903
IL21 ; IL21-AS1
12 0.752 0.360 4 122617757 intron variant C/T snv 0.77 0.010 1.000 1 2014 2014
dbSNP: rs2245214
rs2245214
ATG5
6 0.827 0.240 6 106214866 intron variant C/G snv 0.42 0.010 1.000 1 2014 2014
dbSNP: rs4833837
rs4833837
IL21
5 0.827 0.200 4 122615808 synonymous variant G/A snv 0.74 0.77 0.010 1.000 1 2014 2014
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.040 0.750 4 2013 2017