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: rs2738048
rs2738048
1 1.000 0.120 8 6965263 downstream gene variant A/G snv 0.28 0.810 1.000 4 2011 2015
dbSNP: rs10488764
rs10488764
1 1.000 0.120 11 110460907 intron variant G/A snv 0.18 0.020 1.000 2 2015 2015
dbSNP: rs12716641
rs12716641
1 1.000 0.120 8 7041476 upstream gene variant T/A;C snv 0.710 1.000 2 2014 2015
dbSNP: rs17019602
rs17019602
1 1.000 0.120 1 107646236 intron variant A/G snv 0.19 0.710 1.000 2 2014 2017
dbSNP: rs1008898
rs1008898
1 1.000 0.120 7 7233928 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1055901
rs1055901
1 1.000 0.120 18 63805221 3 prime UTR variant T/C snv 0.61 0.010 < 0.001 1 2016 2016
dbSNP: rs1055902
rs1055902
1 1.000 0.120 18 63805309 3 prime UTR variant C/T snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs11084377
rs11084377
1 1.000 0.120 19 54875434 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs11150612
rs11150612
1 1.000 0.120 16 31346439 intergenic variant G/A snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs11264793
rs11264793
1 1.000 0.120 1 157677736 3 prime UTR variant A/T snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs12022418
rs12022418
1 1.000 0.120 1 192565977 intron variant C/A snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs1362970
rs1362970
1 1.000 0.120 12 95658750 3 prime UTR variant C/A snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1369270
rs1369270
1 1.000 0.120 2 153179546 intron variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs140433921
rs140433921
1 1.000 0.120 2 44286102 start lost T/C snv 2.0E-05 5.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs2033562
rs2033562
1 1.000 0.120 8 102535511 intron variant G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2072392
rs2072392
BID
1 1.000 0.120 22 17743846 synonymous variant A/G snv 2.8E-02 4.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs2074038
rs2074038
1 1.000 0.120 11 44066439 5 prime UTR variant G/T snv 8.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs2188404
rs2188404
1 1.000 0.120 7 93314448 intron variant T/C snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs2227543
rs2227543
1 1.000 0.120 4 73742193 3 prime UTR variant C/T snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs2296136
rs2296136
1 1.000 0.120 10 5887999 missense variant G/C;T snv 5.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs2615787
rs2615787
1 1.000 0.120 8 6953627 upstream gene variant T/G snv 0.41 0.010 1.000 1 2014 2014
dbSNP: rs2738081
rs2738081
1 1.000 0.120 8 6957996 downstream gene variant G/T snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs3129269
rs3129269
1 1.000 0.120 6 33129837 downstream gene variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs3204008
rs3204008
1 1.000 0.120 14 51968341 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4288398
rs4288398
1 1.000 0.120 8 7024116 downstream gene variant A/G snv 0.70 0.010 1.000 1 2014 2014