Source: ALL
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: rs36115365
rs36115365
7 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 0.020 1.000 2 2017 2019
dbSNP: rs4911414
rs4911414
5 0.882 0.120 20 34141638 regulatory region variant T/G snv 0.73 0.710 1.000 2 2011 2013
dbSNP: rs1015362
rs1015362
3 0.925 0.080 20 34150806 regulatory region variant C/T snv 0.42 0.010 1.000 1 2013 2013
dbSNP: rs1015363
rs1015363
1 1.000 0.040 20 34150529 intergenic variant G/A snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs10816595
rs10816595
4 0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs11263498
rs11263498
1 1.000 0.040 11 69567999 TF binding site variant T/C snv 0.51 0.700 1.000 1 2011 2011
dbSNP: rs12029406
rs12029406
3 0.882 0.120 1 199936700 intergenic variant C/T snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs12512631
rs12512631
3 0.882 0.200 4 71735614 intergenic variant T/C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs13097028
rs13097028
1 1.000 0.040 3 169747154 regulatory region variant C/T snv 0.38 0.800 1.000 1 2014 2014
dbSNP: rs1341866
rs1341866
1 1.000 0.040 9 21771242 regulatory region variant T/C snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs1485993
rs1485993
1 1.000 0.040 11 69547646 intergenic variant A/G snv 0.49 0.700 1.000 1 2011 2011
dbSNP: rs2127675
rs2127675
1 1.000 0.040 6 32883073 upstream gene variant A/G snv 0.36 0.010 < 0.001 1 2013 2013
dbSNP: rs228437
rs228437
1 1.000 0.040 6 134577318 intron variant C/A;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs4785752
rs4785752
2 1.000 0.040 16 89968733 upstream gene variant A/G snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs498136
rs498136
4 0.851 0.080 11 69552350 intergenic variant A/C snv 0.68 0.700 1.000 1 2017 2017
dbSNP: rs5759167
rs5759167
4 0.851 0.160 22 43104206 TF binding site variant G/T snv 0.40 0.010 1.000 1 2011 2011
dbSNP: rs62389423
rs62389423
2 1.000 0.040 6 421281 intergenic variant G/A;T snv 8.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs6673928
rs6673928
1 1.000 0.040 1 206763900 downstream gene variant G/T snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs6695772
rs6695772
1 1.000 0.040 1 212708597 intergenic variant C/G snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs7033503
rs7033503
1 1.000 0.040 9 21799599 upstream gene variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs721970
rs721970
1 1.000 0.040 20 33315727 upstream gene variant A/G snv 0.96 0.700 1.000 1 2008 2008
dbSNP: rs7335046
rs7335046
7 0.807 0.040 13 99389484 downstream gene variant G/C snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs1351212535
rs1351212535
1 1.000 0.040 9 104831015 missense variant T/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs10231520
rs10231520
1 1.000 0.040 7 20742471 intron variant C/T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs17817117
rs17817117
1 1.000 0.040 7 20685203 intron variant G/C snv 0.29 0.010 1.000 1 2013 2013