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: rs1880949
rs1880949
1 7 100124643 intron variant G/A;T snv 4.0E-06; 0.26 0.24 0.700 1.000 1 2012 2012
dbSNP: rs11779535
rs11779535
1 8 100376055 downstream gene variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7939778
rs7939778
1 11 100636316 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs544500
rs544500
1 3 100766607 intron variant A/G snv 0.77 0.700 1.000 1 2012 2012
dbSNP: rs4917916
rs4917916
1 10 100913535 3 prime UTR variant G/A snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs76382185
rs76382185
1 1 101182070 regulatory region variant C/T snv 8.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs146490475
rs146490475
1 1 101236803 upstream gene variant T/C snv 1.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs3835397
rs3835397
1 1 101236992 splice donor variant G/- del 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs41287280
rs41287280
1 1 101239021 missense variant C/A;G;T snv 4.0E-06; 1.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs77372977
rs77372977
1 1 101267901 downstream gene variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs77046277
rs77046277
1 1 101279090 intergenic variant C/G snv 1.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs17041439
rs17041439
2 12 101479462 intron variant A/C snv 7.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs457414
rs457414
1 3 10161200 upstream gene variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs458318
rs458318
1 4 102231131 intergenic variant T/A snv 0.82 0.700 1.000 1 2012 2012
dbSNP: rs990171
rs990171
2 1.000 0.080 2 102470310 upstream gene variant A/C snv 0.78 0.700 1.000 1 2016 2016
dbSNP: rs5026472
rs5026472
1 4 102633616 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.700 1.000 1 2016 2016
dbSNP: rs2224234
rs2224234
1 14 102915701 downstream gene variant A/C snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs1163073
rs1163073
1 10 103263177 intergenic variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs35251378
rs35251378
1 19 10349293 downstream gene variant G/A snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs7304326
rs7304326
1 12 105024516 intron variant G/A snv 0.18 0.22 0.700 1.000 1 2012 2012
dbSNP: rs10022109
rs10022109
1 4 105166665 intron variant A/G snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs546941547
rs546941547
1 4 105204229 intron variant TATA/-;TA;TATATA delins 6.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs2460255
rs2460255
1 2 105265604 3 prime UTR variant G/A snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs17104835
rs17104835
1 11 105971356 intron variant A/G snv 0.18 0.700 1.000 1 2012 2012