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: rs13361160
rs13361160
2 1.000 0.040 5 10169711 downstream gene variant T/C snv 0.34 0.800 1.000 1 2013 2013
dbSNP: rs11674595
rs11674595
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs1536309
rs1536309
7 0.851 0.160 10 102435445 upstream gene variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2013 2013
dbSNP: rs72520913
rs72520913
1 11 102845217 upstream gene variant -/C;G ins 0.010 1.000 1 2013 2013
dbSNP: rs1676486
rs1676486
7 0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1277774683
rs1277774683
1 19 10830162 missense variant A/C snv 4.0E-06 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs3750625
rs3750625
2 10 111079843 3 prime UTR variant C/A snv 8.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.020 1.000 2 2014 2016
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2014 2014
dbSNP: rs6276
rs6276
8 0.807 0.320 11 113410675 3 prime UTR variant C/T snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.020 1.000 2 2014 2019
dbSNP: rs6275
rs6275
7 0.851 0.160 11 113412755 synonymous variant A/G snv 0.64 0.58 0.010 1.000 1 2012 2012
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1801252
rs1801252
17 0.724 0.320 10 114044277 missense variant A/G snv 0.15 0.17 0.010 1.000 1 2013 2013
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.010 1.000 1 2013 2013
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.020 1.000 2 2009 2014
dbSNP: rs104894379
rs104894379
2 1.000 0.120 12 114398675 stop gained G/A;C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs11466112
rs11466112
3 1.000 0.080 1 115286135 missense variant G/A snv 1.6E-05 7.0E-06 0.030 1.000 3 2009 2019
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 2012 2012
dbSNP: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs17122021
rs17122021
1 11 118274971 regulatory region variant C/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs2073618
rs2073618
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.010 < 0.001 1 2016 2016
dbSNP: rs1718125
rs1718125
6 0.851 0.200 12 121155216 intron variant C/T snv 0.15 0.19 0.020 1.000 2 2014 2019
dbSNP: rs796590326
rs796590326
5 0.851 0.200 12 121162449 missense variant GT/AC mnv 0.010 1.000 1 2014 2014