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: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 12 2005 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 11 2005 2019
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.030 1.000 3 2008 2019
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs10795668
rs10795668
LOC105376400
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs11255841
rs11255841 		11 0.776 0.080 10 8697617 intergenic variant T/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs142287570
rs142287570
GCM2
2 1.000 6 10874335 missense variant T/G snv 6.6E-04 4.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
13 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2019 2019
dbSNP: rs371918069
rs371918069
GCM2
2 1.000 6 10874372 missense variant C/T snv 5.6E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs61734277
rs61734277
GCM2
5 0.882 0.080 6 10874672 missense variant A/C snv 9.1E-03 8.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.020 1.000 2 2010 2018
dbSNP: rs1201299
rs1201299
TBL1XR1
1 3 177053096 intron variant C/T snv 1.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs1927911
rs1927911
TLR4
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs7873784
rs7873784
TLR4
11 0.752 0.440 9 117716658 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs386352352
rs386352352
PRKACA
6 0.851 0.080 19 14097604 missense variant A/C snv 0.030 1.000 3 2015 2017
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 2017 2017
dbSNP: rs121913409
rs121913409
CTNNB1
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2720574
rs2720574
PDGFRL
1 8 17578682 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs386834263
rs386834263
CACNA1D
1 3 53673113 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs4952490
rs4952490
SLC8A1 ; SLC8A1-AS1
2 1.000 0.080 2 40145564 intron variant A/G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2017 2017
dbSNP: rs7968585
rs7968585
LINC02354
7 0.851 0.160 12 47838310 downstream gene variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2959656
rs2959656
MEN1 ; MAP4K2
5 0.851 0.160 11 64804546 missense variant T/C snv 0.94 0.90 0.010 1.000 1 2016 2016
dbSNP: rs7131056
rs7131056
DRD2
6 0.827 0.200 11 113459052 intron variant A/C snv 0.51 0.010 1.000 1 2016 2016
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.030 1.000 3 2010 2015