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: rs12199775
rs12199775
1 6 143577757 intron variant A/G snv 4.8E-02 0.800 1.000 2 2012 2015
dbSNP: rs7911264
rs7911264
1 10 92677094 intergenic variant T/A;C;G snv 0.800 1.000 2 2012 2017
dbSNP: rs9557195
rs9557195
1 13 99304368 intron variant T/C snv 0.16 0.800 1.000 2 2012 2017
dbSNP: rs1003342
rs1003342
1 22 30174033 intron variant A/G snv 0.45 0.700 1.000 1 2015 2015
dbSNP: rs10061469
rs10061469
1 5 73222321 intron variant T/C snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs10142466
rs10142466
1 14 68805067 intergenic variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10521318
rs10521318
1 16 85977731 intron variant C/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs10896794
rs10896794
1 11 58571651 intron variant T/C snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs10956252
rs10956252
1 8 125523895 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11187157
rs11187157
1 10 92742487 TF binding site variant T/C snv 0.40 0.700 1.000 1 2015 2015
dbSNP: rs11612508
rs11612508
1 12 12504579 intron variant A/G snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs11641016
rs11641016
1 16 85981275 intron variant C/G snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs11677953
rs11677953
1 2 218256940 non coding transcript exon variant G/A snv 0.36 0.700 1.000 1 2015 2015
dbSNP: rs11708026
rs11708026
1 3 18700310 intron variant A/G snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs11768365
rs11768365
1 7 6505557 intron variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs12318183
rs12318183
1 12 68110056 intron variant C/A snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs1250566
rs1250566
1 10 79286696 intron variant G/A snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs1256517634
rs1256517634
1 16 50711025 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs12585310
rs12585310
1 13 26954210 intergenic variant G/A snv 0.27 0.700 1.000 1 2015 2015
dbSNP: rs12720460
rs12720460
1 17 27801261 intron variant ATTT/-;ATTTATTT;ATTTATTTATTT delins 0.010 1.000 1 2017 2017
dbSNP: rs1280165854
rs1280165854
1 19 18596702 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1297258
rs1297258
1 21 15434390 intron variant C/T snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs13069567
rs13069567
1 3 169042362 downstream gene variant A/T snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs1343126
rs1343126
1 1 113586470 intron variant A/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1388585
rs1388585
1 12 40137889 downstream gene variant G/A snv 0.95 0.700 1.000 1 2015 2015