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: rs363387
rs363387
1 1.000 0.080 10 117244053 synonymous variant T/A;C;G snv 4.0E-06; 7.9E-02 0.020 1.000 2 2005 2013
dbSNP: rs1126671
rs1126671
5 0.851 0.120 4 99127263 missense variant T/C snv 0.76 0.75 0.010 1.000 1 2005 2005
dbSNP: rs1806191
rs1806191
2 0.925 0.080 12 13563704 missense variant G/A;T snv 0.40; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1806201
rs1806201
8 0.776 0.200 12 13564574 synonymous variant G/A snv 0.32 0.24 0.010 1.000 1 2005 2005
dbSNP: rs1824024
rs1824024
4 0.851 0.160 7 136958947 intron variant C/A snv 0.65 0.010 1.000 1 2005 2005
dbSNP: rs6356
rs6356
TH
5 0.827 0.240 11 2169721 missense variant C/T snv 0.43 0.32 0.010 1.000 1 2005 2005
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2006 2018
dbSNP: rs1800759
rs1800759
4 0.925 0.120 4 99144358 intron variant T/G snv 0.49 0.020 1.000 2 2006 2011
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.020 1.000 2 2006 2014
dbSNP: rs6691840
rs6691840
5 0.827 0.120 1 36859876 missense variant A/C;G snv 0.27; 9.2E-05 0.020 0.500 2 2006 2013
dbSNP: rs1535255
rs1535255
8 0.807 0.120 6 88151489 intron variant T/G snv 0.21 0.010 1.000 1 2006 2006
dbSNP: rs1805247
rs1805247
2 0.925 0.080 12 13563041 synonymous variant A/G snv 0.13 0.17 0.010 1.000 1 2006 2006
dbSNP: rs1805502
rs1805502
7 0.790 0.200 12 13561247 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2006 2006
dbSNP: rs29230
rs29230
6 0.807 0.440 6 29608616 missense variant A/C;G snv 4.1E-06; 0.18 0.010 < 0.001 1 2006 2006
dbSNP: rs7254880
rs7254880
4 0.882 0.160 19 9298599 intron variant C/G snv 0.16 0.010 1.000 1 2006 2006
dbSNP: rs1076560
rs1076560
11 0.776 0.120 11 113412966 intron variant C/A snv 0.16 0.020 1.000 2 2007 2014
dbSNP: rs1017418
rs1017418
1 1.000 0.080 2 51821024 intron variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs1332184
rs1332184
1 1.000 0.080 9 21504204 intron variant A/C;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1943418
rs1943418
1 1.000 0.080 18 59812296 intergenic variant T/C snv 0.76 0.010 1.000 1 2007 2007
dbSNP: rs2236418
rs2236418
6 0.882 0.120 10 26216567 upstream gene variant A/G snv 0.36 0.010 1.000 1 2007 2007
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2007 2007
dbSNP: rs3091367
rs3091367
1 1.000 0.080 22 37831814 3 prime UTR variant C/G snv 0.27 0.010 1.000 1 2007 2007
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2007 2007
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2007 2007
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2007 2007