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: rs10912872
rs10912872
2 1 171387110 intergenic variant G/T snv 0.38 0.700 1.000 1 2015 2015
dbSNP: rs10919388
rs10919388
4 1 170403362 intergenic variant A/C snv 0.71 0.700 1.000 1 2017 2017
dbSNP: rs10923712
rs10923712
4 1 118962811 intron variant G/A snv 0.56 0.700 1.000 1 2017 2017
dbSNP: rs1106529
rs1106529
3 1 118988874 intron variant G/A snv 0.77 0.700 1.000 1 2017 2017
dbSNP: rs11205277
rs11205277
5 1.000 0.120 1 149920979 upstream gene variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11205911
rs11205911
1 1 51930640 intron variant A/G snv 0.61 0.700 1.000 1 2010 2010
dbSNP: rs12048049
rs12048049
2 1 218423955 intron variant C/G snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs12127195
rs12127195
2 1 221136075 upstream gene variant G/A snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs12143789
rs12143789
2 1 118954531 intron variant G/C snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs12566236
rs12566236
1 1 51931271 intron variant G/T snv 0.61 0.700 1.000 1 2010 2010
dbSNP: rs12731372
rs12731372
3 1 118310352 regulatory region variant C/T snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs17396340
rs17396340
3 1 10226118 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs2274432
rs2274432
5 1 184051811 missense variant G/A snv 0.33 0.28 0.700 1.000 1 2017 2017
dbSNP: rs2568958
rs2568958
8 0.882 0.160 1 72299433 intron variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs2645294
rs2645294
4 1 119031964 3 prime UTR variant C/T snv 0.59 0.700 1.000 1 2017 2017
dbSNP: rs2815752
rs2815752
7 0.925 0.200 1 72346757 intron variant G/A snv 0.62 0.700 1.000 1 2010 2010
dbSNP: rs2820443
rs2820443
8 0.882 0.120 1 219580167 regulatory region variant T/C snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs3101336
rs3101336
6 1.000 0.080 1 72285502 intron variant T/C snv 0.62 0.700 1.000 1 2010 2010
dbSNP: rs3101457
rs3101457
2 1 244369912 intron variant G/A snv 0.80 0.700 1.000 1 2012 2012
dbSNP: rs3897379
rs3897379
2 1 219586391 regulatory region variant A/G snv 0.79 0.700 1.000 1 2017 2017
dbSNP: rs4537555
rs4537555
2 1 210504207 intron variant A/G snv 8.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs6698110
rs6698110
1 1 51938469 intron variant T/C snv 0.60 0.700 1.000 1 2010 2010
dbSNP: rs714515
rs714515
3 1 172383850 intron variant G/A snv 0.46 0.700 1.000 1 2017 2017
dbSNP: rs72666268
rs72666268
2 1 59655756 intron variant A/G snv 8.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs7536458
rs7536458
5 1 118321979 intergenic variant T/G snv 0.23 0.700 1.000 1 2017 2017