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: rs57646126
rs57646126
3 0.882 0.040 21 28959613 missense variant G/A snv 5.7E-02 2.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs61945387
rs61945387
3 0.882 0.040 12 117921609 intron variant A/G snv 7.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs62482377
rs62482377
3 0.882 0.040 7 156250946 intergenic variant G/C snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs6558872
rs6558872
3 0.882 0.040 8 4380617 intron variant G/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs6703335
rs6703335
3 0.882 0.040 1 243445665 intron variant A/G snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs6738485
rs6738485
3 0.882 0.040 2 106193504 intron variant C/T snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs679895
rs679895
3 0.882 0.040 5 29091578 intron variant C/T snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs74417947
rs74417947
3 0.882 0.040 20 37181711 intron variant G/A snv 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs74796725
rs74796725
3 0.882 0.040 12 53187599 3 prime UTR variant G/T snv 1.2E-02 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs75062117
rs75062117
3 0.882 0.040 12 90883555 intron variant G/A snv 1.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs75583333
rs75583333
2 0.925 0.040 5 160168028 intergenic variant C/A snv 8.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs76082815
rs76082815
3 0.882 0.040 13 75821206 missense variant C/T snv 1.7E-02 7.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs7766730
rs7766730
3 0.882 0.040 6 65987110 intergenic variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs77867520
rs77867520
3 0.882 0.040 4 11186225 intergenic variant C/T snv 7.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs79323383
rs79323383
2 0.925 0.040 8 120839185 intergenic variant T/G snv 4.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs7939917
rs7939917
3 0.882 0.040 11 113697374 missense variant C/T snv 2.0E-03 9.2E-03 0.700 1.000 1 2017 2017
dbSNP: rs9347865
rs9347865
2 0.925 0.040 6 164507108 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs9354352
rs9354352
3 0.882 0.040 6 65986379 intergenic variant T/C snv 0.42 0.700 1.000 1 2017 2017
dbSNP: rs981975
rs981975
2 0.925 0.040 14 72119843 intron variant A/G snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 1.000 4 2009 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.040 1.000 4 2009 2019
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 1.000 2 2004 2010
dbSNP: rs10137071
rs10137071
2 0.925 0.040 14 54903622 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2010 2010
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006