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: rs794727961
rs794727961
5 0.851 0.080 12 2512979 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs8150
rs8150
6 0.807 0.160 17 76470935 3 prime UTR variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.040 0.500 4 2009 2011
dbSNP: rs10494251
rs10494251
4 0.851 0.040 1 147552120 intron variant C/T snv 5.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs10994336
rs10994336
12 0.776 0.160 10 60420054 intron variant C/T snv 7.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs146486358
rs146486358
3 0.882 0.080 7 102205168 missense variant C/T snv 8.6E-04 3.0E-04 0.010 1.000 1 2011 2011
dbSNP: rs1541187
rs1541187
3 0.882 0.040 1 147579693 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2011 2011
dbSNP: rs208294
rs208294
9 0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51 0.010 < 0.001 1 2011 2011
dbSNP: rs231779
rs231779
5 0.827 0.160 2 203869764 intron variant C/T snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs3810950
rs3810950
3 0.882 0.080 10 49616573 missense variant G/A snv 0.21 0.18 0.010 1.000 1 2011 2011
dbSNP: rs672607
rs672607
4 0.851 0.040 1 147581540 intron variant G/A snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs688325
rs688325
4 0.851 0.040 1 147605490 intron variant G/A snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs737865
rs737865
11 0.763 0.240 22 19942598 intron variant A/G snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs796590326
rs796590326
5 0.851 0.200 12 121162449 missense variant GT/AC mnv 0.010 < 0.001 1 2011 2011
dbSNP: rs946903
rs946903
3 0.882 0.040 1 147625465 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs174697
rs174697
5 0.851 0.080 22 19966309 intron variant A/G snv 0.88 0.010 1.000 1 2012 2012
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 2012 2012
dbSNP: rs195478
rs195478
2 0.925 0.040 6 115851928 intergenic variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs2268666
rs2268666
1 1.000 0.040 6 146424952 intron variant C/T snv 0.51 0.010 1.000 1 2012 2012
dbSNP: rs2273816
rs2273816
4 0.851 0.080 13 49719920 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs760161369
rs760161369
3 0.882 0.040 1 11800214 missense variant G/A;C snv 2.8E-05; 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2012 2012