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: rs4665058
rs4665058
2 2 159333698 intron variant A/C snv 0.90 0.700 1.000 1 2011 2011
dbSNP: rs12155623
rs12155623
2 8 48899642 regulatory region variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2077316
rs2077316
1 10 62465689 intron variant A/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs13022357
rs13022357
2 2 159213245 intron variant A/G snv 0.83 0.700 1.000 1 2011 2011
dbSNP: rs16872085
rs16872085
2 8 104945312 intron variant A/G snv 7.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs17291650
rs17291650
2 12 50819650 synonymous variant A/G snv 6.7E-02 6.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs54211
rs54211
2 22 39291479 upstream gene variant A/G snv 0.90 0.700 1.000 1 2011 2011
dbSNP: rs6716724
rs6716724
2 2 11370822 intergenic variant A/G snv 0.82 0.700 1.000 1 2011 2011
dbSNP: rs6730157
rs6730157
1 2 135149518 intron variant A/G snv 0.60 0.700 1.000 1 2013 2013
dbSNP: rs11624056
rs11624056
2 14 87039904 intergenic variant A/T snv 8.0E-02 0.700 1.000 1 2011 2011
dbSNP: rs2389202
rs2389202
2 4 116333133 intergenic variant A/T snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs1057518920
rs1057518920
DSP
5 0.925 0.080 6 7575386 stop gained C/A snv 0.700 0
dbSNP: rs143978652
rs143978652
6 0.882 0.080 14 23393437 missense variant C/A;T snv 9.3E-04; 4.0E-06 0.700 0
dbSNP: rs62641689
rs62641689
2 15 73323818 missense variant C/A;T snv 3.2E-03 0.700 0
dbSNP: rs12189362
rs12189362
2 5 153677988 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs1559040
rs1559040
2 2 54120613 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs1823172
rs1823172
2 12 127308069 intergenic variant C/T snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs2281680
rs2281680
2 14 23563861 splice region variant C/T snv 0.18 0.13 0.700 1.000 1 2011 2011
dbSNP: rs7157599
rs7157599
6 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 0.700 1.000 1 2011 2011
dbSNP: rs7307780
rs7307780
2 12 75826838 intron variant C/T snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs10183640
rs10183640
2 2 157923692 intron variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs16866933
rs16866933
2 2 179701951 intron variant G/A snv 9.3E-02 0.700 1.000 1 2011 2011
dbSNP: rs2824292
rs2824292
3 0.925 0.080 21 17414857 regulatory region variant G/A snv 0.47 0.700 1.000 1 2011 2011
dbSNP: rs4621553
rs4621553
2 5 113694467 intergenic variant G/A snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs71352737
rs71352737
1 19 49182889 stop gained G/A snv 1.5E-03 1.6E-03 0.700 0