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: rs1486559930
rs1486559930
1 11 49175866 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs935907949
rs935907949
1 16 28867355 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs11061946
rs11061946
2 1.000 0.080 12 1719361 intron variant C/T snv 6.8E-02 0.010 1.000 1 2011 2011
dbSNP: rs11061973
rs11061973
2 1.000 0.080 12 1756770 intron variant G/A snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs1527483
rs1527483
2 1.000 0.080 7 80672184 intron variant G/A snv 6.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs17446593
rs17446593
2 1.000 0.080 13 40553948 intron variant A/G snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs2073162
rs2073162
2 1.000 0.080 X 100594020 synonymous variant G/A snv 0.40 0.39 0.010 1.000 1 2007 2007
dbSNP: rs33954001
rs33954001
2 1.000 0.120 22 32110063 missense variant C/G;T snv 4.8E-02; 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs3731201
rs3731201
2 1.000 0.080 9 21988897 intron variant C/T snv 0.86 0.010 1.000 1 2010 2010
dbSNP: rs495490
rs495490
2 1.000 0.080 9 22010413 intron variant A/G snv 6.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs760555162
rs760555162
2 1.000 0.080 12 6537178 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs775018856
rs775018856
2 1.000 0.080 17 7283304 synonymous variant G/A snv 2.8E-05 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs13283456
rs13283456
3 0.925 0.080 9 128122474 missense variant C/A;T snv 4.0E-06; 0.13 0.010 1.000 1 2007 2007
dbSNP: rs2297627
rs2297627
3 0.925 0.120 13 40659794 intron variant A/G snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs867232360
rs867232360
GCK
3 1.000 0.040 7 44145552 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs945508
rs945508
3 1.000 0.080 1 156937289 missense variant T/C snv 0.64 0.66 0.010 1.000 1 2008 2008
dbSNP: rs1799999
rs1799999
4 0.882 0.160 7 113878379 missense variant C/A snv 0.22 0.17 0.010 < 0.001 1 2000 2000
dbSNP: rs2721068
rs2721068
4 0.882 0.160 13 40565575 intron variant T/C snv 0.38 0.010 1.000 1 2009 2009
dbSNP: rs72551362
rs72551362
4 0.925 0.080 3 12416836 missense variant G/A snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs137852787
rs137852787
5 0.882 0.080 13 27924519 missense variant G/A snv 1.3E-03 2.0E-04 0.010 1.000 1 2004 2004
dbSNP: rs17446614
rs17446614
5 0.851 0.240 13 40565740 intron variant G/A snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs1884614
rs1884614
5 0.882 0.080 20 44351879 non coding transcript exon variant C/T snv 0.18 0.010 1.000 1 2004 2004
dbSNP: rs2233580
rs2233580
5 0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs2293855
rs2293855
5 0.851 0.120 8 11319901 non coding transcript exon variant G/A snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs3813929
rs3813929
5 0.851 0.240 X 114584047 upstream gene variant C/G;T snv 0.010 1.000 1 2009 2009