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: rs115777110
rs115777110
3 0.882 0.040 1 208936211 intergenic variant T/C snv 1.2E-02 0.700 1.000 1 2017 2017
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
dbSNP: rs146330533
rs146330533
3 0.882 0.040 1 17669971 intron variant G/A snv 1.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs1625579
rs1625579
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.010 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: rs11125080
rs11125080
3 0.882 0.040 2 46505266 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs13001243
rs13001243
3 0.882 0.040 2 234306004 regulatory region variant G/A snv 7.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs138449918
rs138449918
3 0.882 0.040 2 39936810 intron variant AT/-;ATAT delins 0.700 1.000 1 2017 2017
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: rs2710323
rs2710323
7 0.851 0.080 3 52781889 intron variant T/C snv 0.49 0.54 0.700 1.000 1 2013 2013
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2005 2005
dbSNP: rs4470690
rs4470690
2 0.925 0.040 4 187800358 intergenic variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs56196471
rs56196471
3 0.882 0.040 4 178642661 intergenic variant G/A snv 2.9E-02 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: rs105633
rs105633
3 0.882 0.040 5 141945684 synonymous variant T/C;G snv 0.98; 4.0E-06 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: 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: rs17693963
rs17693963
5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2012 2012
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs7766730
rs7766730
3 0.882 0.040 6 65987110 intergenic variant C/A;T snv 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: 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: rs201048567
rs201048567
3 0.882 0.040 7 125615031 intergenic variant CA/- delins 1.0E-05 0.700 1.000 1 2017 2017