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: rs1223868338
rs1223868338
ACTA2 ; FAS
3 0.882 0.040 10 88990884 missense variant G/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1642785
rs1642785
TP53
6 0.807 0.200 17 7676483 5 prime UTR variant G/A;C;T snv 1.2E-05; 0.67; 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
18 0.742 0.320 MT 8993 missense variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs59267781
rs59267781
LMNA
4 0.851 0.120 1 156138657 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs998074
rs998074
IGF2R
3 0.882 0.040 6 160047351 intron variant T/A;C snv 0.53 0.010 1.000 1 2007 2007
dbSNP: rs998075
rs998075
IGF2R
3 0.882 0.040 6 160047246 synonymous variant A/G snv 0.53 0.54 0.010 1.000 1 2007 2007
dbSNP: rs1060501205
rs1060501205
TP53
5 0.827 0.120 17 7673749 missense variant TG/GT mnv 0.010 1.000 1 2008 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs747342068
rs747342068
TP53
21 0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2007 2009
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2007 2009
dbSNP: rs1353702185
rs1353702185
MDM2
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs368933511
rs368933511
SQSTM1 ; MRNIP
5 0.851 0.080 5 179836485 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2009 2011
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs4553808
rs4553808
CTLA4
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs5742909
rs5742909
CTLA4
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.720 1.000 2 2007 2012
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913282
rs121913282
PIK3CA
4 0.882 0.040 3 179221072 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1226994105
rs1226994105
PIK3CG
5 0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1233296947
rs1233296947
CTNNB1
5 0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012