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: rs111724149
rs111724149
PRDM11
2 0.925 0.120 11 45204720 missense variant A/G snv 1.8E-03 1.8E-03 0.700 0
dbSNP: rs35090414
rs35090414
PRDM11
2 0.925 0.120 11 45224227 missense variant G/A;T snv 1.5E-04; 8.2E-02 0.700 0
dbSNP: rs1323292
rs1323292
LOC105371664
3 0.882 0.160 1 192571891 intron variant G/A snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs13255292
rs13255292
PVT1
2 0.925 0.120 8 128064327 intron variant C/T snv 0.24 0.700 1.000 1 2014 2014
dbSNP: rs140522
rs140522
ODF3B
11 0.851 0.160 22 50532837 upstream gene variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1444766
rs1444766
KALRN
3 0.882 0.160 3 124206424 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs16978630
rs16978630
TNPO2
2 0.925 0.160 19 12702869 missense variant T/C;G snv 4.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs2425752
rs2425752
NCOA5
4 0.851 0.160 20 46073481 intron variant T/C snv 0.79 0.700 1.000 1 2019 2019
dbSNP: rs2523607
rs2523607
HLA-B ; MIR6891
1 1.000 0.120 6 31355013 non coding transcript exon variant T/A snv 0.700 1.000 1 2014 2014
dbSNP: rs2681416
rs2681416
CD86
2 0.925 0.120 3 122098766 intron variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs3890745
rs3890745
MMEL1
4 0.925 0.200 1 2622185 intron variant T/C snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs4733601
rs4733601 		1 1.000 0.120 8 128257220 TF binding site variant A/G snv 0.41 0.700 1.000 1 2014 2014
dbSNP: rs751837
rs751837
CDC42BPB
4 0.882 0.120 14 103018488 intron variant T/C snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs7712513
rs7712513
LOC101927357
2 0.925 0.120 5 122582513 intergenic variant G/T snv 0.71 0.700 1.000 1 2015 2015
dbSNP: rs7765004
rs7765004 		2 0.925 0.120 6 113750518 regulatory region variant A/C snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs79464052
rs79464052
ARAP3
1 1.000 0.120 5 141655607 intron variant G/C snv 7.1E-02 7.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs79480871
rs79480871 		2 0.925 0.160 2 24471603 intergenic variant C/T snv 9.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs806321
rs806321
DLEU1
4 0.851 0.160 13 50267187 intron variant C/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs10462020
rs10462020
PER3
2 0.925 0.160 1 7820623 missense variant T/G snv 0.17 0.16 0.010 1.000 1 2015 2015
dbSNP: rs10484561
rs10484561 		6 0.827 0.160 6 32697643 intergenic variant T/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 1997 1997
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 1997 1997
dbSNP: rs1057520009
rs1057520009
XPO1
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs11045879
rs11045879
SLCO1B1
4 1.000 0.120 12 21229685 intron variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2016 2016