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: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2004 2004
dbSNP: rs12938
rs12938
5 0.851 0.160 1 169691640 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2005 2005
dbSNP: rs2076530
rs2076530
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 1.000 1 2005 2005
dbSNP: rs3219018
rs3219018
2 1.000 0.080 1 161662856 upstream gene variant G/C snv 0.010 1.000 1 2005 2005
dbSNP: rs369861029
rs369861029
1 1.000 0.080 9 35612990 missense variant G/A snv 7.0E-06 0.020 1.000 2 2004 2006
dbSNP: rs231726
rs231726
7 0.790 0.200 2 203876143 downstream gene variant C/T snv 0.36 0.010 1.000 1 2006 2006
dbSNP: rs756312947
rs756312947
2 1.000 0.080 19 12940307 missense variant T/C snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs11575936
rs11575936
4 0.851 0.200 6 137219288 missense variant C/T snv 1.3E-03 4.1E-04 0.030 1.000 3 1999 2007
dbSNP: rs10127175
rs10127175
1 1.000 0.080 X 154018721 missense variant A/T snv 5.1E-03 1.8E-02 0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs1048971
rs1048971
CR2
4 0.851 0.160 1 207472977 synonymous variant G/A;T snv 0.34; 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1050499
rs1050499
1 1.000 0.080 1 161673197 missense variant A/T snv 2.4E-03 4.4E-03 0.010 1.000 1 2007 2007
dbSNP: rs1457092
rs1457092
8 0.790 0.320 19 17193427 intron variant C/A snv 0.44 0.010 1.000 1 2007 2007
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 < 0.001 1 2007 2007
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2007 2007
dbSNP: rs200013015
rs200013015
1 1.000 0.080 17 16972018 missense variant G/A;T snv 7.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2007 2007
dbSNP: rs2305764
rs2305764
10 0.776 0.360 19 17203024 non coding transcript exon variant G/A snv 0.52 0.50 0.010 1.000 1 2007 2007
dbSNP: rs3087456
rs3087456
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.010 < 0.001 1 2007 2007
dbSNP: rs3917815
rs3917815
1 1.000 0.080 1 169596008 missense variant T/C snv 1.5E-03 6.4E-03 0.010 1.000 1 2007 2007
dbSNP: rs5017567
rs5017567
1 1.000 0.080 1 161671506 missense variant A/C snv 6.4E-05 1.3E-04 0.010 1.000 1 2007 2007
dbSNP: rs55916807
rs55916807
2 0.925 0.080 17 16948968 missense variant C/T snv 2.0E-03 2.6E-03 0.010 1.000 1 2007 2007
dbSNP: rs6104
rs6104
6 0.807 0.160 18 63903295 missense variant C/G snv 0.29 0.28 0.010 1.000 1 2007 2007
dbSNP: rs746699652
rs746699652
1 1.000 0.080 1 169612974 missense variant A/T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs9808753
rs9808753
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2007 2007