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: rs28940285
rs28940285
2 1.000 0.040 1 20645640 missense variant T/C snv 1.6E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs74315356
rs74315356
3 0.925 0.040 1 20649054 stop gained G/A snv 4.0E-06 1.4E-05 0.030 1.000 3 2006 2008
dbSNP: rs45467995
rs45467995
1 1 20649062 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs45539432
rs45539432
5 0.851 0.040 1 20649109 stop gained C/T snv 4.0E-05 3.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs121917763
rs121917763
TH
5 0.925 0.040 11 2167896 missense variant A/G snv 1.2E-05 7.0E-06 0.030 1.000 3 1996 1999
dbSNP: rs80338892
rs80338892
TH
3 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.010 1.000 1 2017 2017
dbSNP: rs748705829
rs748705829
1 11 233109 missense variant T/C snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs781442277
rs781442277
3 1.000 0.040 2 24793223 missense variant C/T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1057519629
rs1057519629
1 16 2498332 missense variant C/G;T snv 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs752804472
rs752804472
1 20 31484309 missense variant G/A;T snv 5.7E-06; 5.7E-06 0.010 1.000 1 2016 2016
dbSNP: rs762999184
rs762999184
2 1.000 0.080 22 32478989 missense variant C/A;T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs41311141
rs41311141
1 22 32484019 synonymous variant A/G;T snv 3.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs121918304
rs121918304
4 0.925 0.080 22 32498453 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs398122403
rs398122403
11 0.807 0.080 21 32695106 missense variant C/T snv 1.2E-05 0.050 1.000 5 2013 2016
dbSNP: rs121908683
rs121908683
5 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs752078407
rs752078407
3 1.000 0.080 20 3910806 missense variant A/T snv 6.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.030 1.000 3 2008 2014
dbSNP: rs34995376
rs34995376
7 0.807 0.080 12 40310435 missense variant G/A snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs111501952
rs111501952
2 1.000 0.040 12 40310461 missense variant G/A snv 4.4E-05 7.7E-05 0.010 1.000 1 2013 2013
dbSNP: rs35801418
rs35801418
7 0.827 0.120 12 40321114 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs34015634
rs34015634
8 0.851 0.120 12 40340380 missense variant T/C snv 3.2E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.100 0.958 24 2005 2020
dbSNP: rs34778348
rs34778348
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.010 1.000 1 2007 2007
dbSNP: rs1239756674
rs1239756674
2 1.000 0.040 X 43743818 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs772784579
rs772784579
GRN
2 1.000 0.040 17 44352387 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018