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: rs10508881
rs10508881
1 1.000 0.040 10 44046117 regulatory region variant A/G snv 0.50 0.800 1.000 1 2013 2013
dbSNP: rs10917151
rs10917151
3 0.925 0.040 1 22096228 3 prime UTR variant G/A snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs10975519
rs10975519
1 1.000 0.040 9 6253571 synonymous variant C/T snv 0.38 0.35 0.800 1.000 1 2013 2013
dbSNP: rs12449465
rs12449465
1 1.000 0.040 17 3126260 downstream gene variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs2270221
rs2270221
1 1.000 0.040 7 31864413 intron variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs2738113
rs2738113
1 1.000 0.040 8 6971563 upstream gene variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs6757804
rs6757804
1 1.000 0.040 2 150779318 regulatory region variant C/T snv 0.58 0.800 1.000 1 2013 2013
dbSNP: rs10129516
rs10129516
1 1.000 0.040 14 63133372 intron variant T/A;C snv 0.710 < 0.001 1 2017 2017
dbSNP: rs644045
rs644045
4 0.851 0.240 6 31916180 intron variant A/G snv 0.72 0.710 1.000 1 2017 2017
dbSNP: rs10131751
rs10131751
1 1.000 0.040 14 28212010 intergenic variant C/A snv 9.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs10167914
rs10167914
1 1.000 0.040 2 112805784 TF binding site variant A/G snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs10282436
rs10282436
1 1.000 0.040 7 25833490 upstream gene variant G/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs10419023
rs10419023
1 1.000 0.040 19 48427965 intron variant C/T snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs1055144
rs1055144
3 1.000 0.040 7 25831489 non coding transcript exon variant C/T snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs10757272
rs10757272
6 0.851 0.160 9 22088261 intron variant C/T snv 0.41 0.700 1.000 1 2017 2017
dbSNP: rs10777670
rs10777670
1 1.000 0.040 12 95181055 intron variant G/A snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs10859856
rs10859856
1 1.000 0.040 12 95237500 intron variant T/C snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs11085835
rs11085835
1 1.000 0.040 19 13221196 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11132055
rs11132055
1 1.000 0.040 4 181401652 intergenic variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs113850637
rs113850637
1 1.000 0.040 3 104131556 intergenic variant C/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs116175374
rs116175374
1 1.000 0.040 2 31202319 intron variant G/A snv 4.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs116250606
rs116250606
1 1.000 0.040 10 103473496 missense variant C/T snv 6.5E-06; 4.1E-03 2.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs11692361
rs11692361
1 1.000 0.040 2 66496567 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12037376
rs12037376
3 0.925 0.040 1 22135618 intron variant G/A snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs12455952
rs12455952
2 1.000 0.040 18 61173285 intergenic variant T/C;G snv 0.19 0.700 1.000 1 2017 2017