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: rs121913275
rs121913275
PIK3CA
26 0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913295
rs121913295
RB1
1 1.000 0.080 13 48463741 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913343
rs121913343
TP53
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs12200782
rs12200782
BTN3A1
1 1.000 0.080 6 26402808 intron variant C/G snv 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs12981718
rs12981718
VSTM1
1 1.000 0.080 19 54064604 upstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs140013431
rs140013431
BMP6
1 1.000 0.080 6 7770278 intron variant T/C snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs141670911
rs141670911 		1 1.000 0.080 6 26581030 intergenic variant A/T snv 7.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs141877527
rs141877527 		1 1.000 0.080 10 33497992 intergenic variant A/G snv 7.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs148924904
rs148924904
TP53
17 0.724 0.360 17 7675124 missense variant T/C snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs17185553
rs17185553
ADAMTSL1
1 1.000 0.080 9 17934122 intron variant G/C snv 6.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs193920774
rs193920774
TP53
22 0.695 0.440 17 7673823 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs3134425
rs3134425
CRTAM
1 1.000 0.080 11 122838470 intron variant T/C snv 0.67 0.700 1.000 1 2017 2017
dbSNP: rs3813565
rs3813565
CHRNB4 ; LOC105370913
6 0.851 0.080 15 78727268 splice region variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs483352697
rs483352697
TP53
21 0.695 0.480 17 7674944 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs530941076
rs530941076
TP53
21 0.695 0.280 17 7674873 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs55853698
rs55853698
CHRNA5
5 0.882 0.080 15 78565597 5 prime UTR variant T/G snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs587780070
rs587780070
TP53
24 0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587780073
rs587780073
TP53
19 0.708 0.400 17 7674262 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs587782177
rs587782177
TP53
11 0.763 0.200 17 7674887 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs587782329
rs587782329
TP53
23 0.677 0.280 17 7674217 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs716274
rs716274 		1 1.000 0.080 11 103547430 intergenic variant A/G snv 0.51 0.700 1.000 1 2010 2010
dbSNP: rs74501188
rs74501188
ADGRV1
1 1.000 0.080 5 90931162 5 prime UTR variant G/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs753660142
rs753660142
TP53
19 0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs786201057
rs786201057
TP53
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016