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: rs1545620
rs1545620
6 0.827 0.080 19 17192965 missense variant T/A;G snv 1.3E-05; 0.52 0.030 0.667 3 2006 2016
dbSNP: rs2076756
rs2076756
5 0.882 0.040 16 50722970 intron variant A/G snv 0.17 0.820 1.000 3 2006 2017
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.720 1.000 3 2006 2010
dbSNP: rs1020856343
rs1020856343
5 0.851 0.240 5 132393705 missense variant C/T snv 4.0E-06 0.020 1.000 2 2006 2010
dbSNP: rs1239681664
rs1239681664
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.020 0.500 2 2006 2007
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.020 1.000 2 2006 2006
dbSNP: rs2075820
rs2075820
10 0.790 0.200 7 30452621 missense variant C/T snv 0.27 0.28 0.020 1.000 2 2006 2007
dbSNP: rs1127354
rs1127354
26 0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02 0.010 1.000 1 2006 2006
dbSNP: rs1142345
rs1142345
9 0.776 0.280 6 18130687 missense variant T/C;G snv 3.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs1256517634
rs1256517634
1 16 50711025 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1280165854
rs1280165854
1 19 18596702 missense variant G/A snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs13306190
rs13306190
7 0.807 0.320 2 21032408 missense variant G/A;C;T snv 1.7E-04; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1426809883
rs1426809883
1 19 10284797 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs34694289
rs34694289
1 19 7689215 missense variant G/A;C snv 2.4E-03; 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs5743342
rs5743342
1 7 30452303 missense variant C/T snv 3.5E-03 1.1E-02 0.010 1.000 1 2006 2006
dbSNP: rs755554858
rs755554858
1 16 50711106 missense variant G/A snv 1.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs780005934
rs780005934
1 16 50710710 missense variant G/A snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs867671924
rs867671924
3 1.000 0.080 17 47292176 missense variant C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.070 1.000 7 2007 2020
dbSNP: rs1333407770
rs1333407770
3 0.925 0.040 10 77811115 frameshift variant G/-;GG delins 0.030 1.000 3 2007 2016
dbSNP: rs1384936174
rs1384936174
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.030 1.000 3 2007 2009
dbSNP: rs2289310
rs2289310
3 0.925 0.040 10 77811115 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 5.7E-02 0.030 1.000 3 2007 2016
dbSNP: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.020 1.000 2 2007 2012
dbSNP: rs1495965
rs1495965
8 0.790 0.280 1 67287825 intergenic variant C/T snv 0.55 0.020 1.000 2 2007 2009
dbSNP: rs11264799
rs11264799
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.010 1.000 1 2007 2007