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: rs28897672
rs28897672
16 0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05 0.770 1.000 7 2005 2019
dbSNP: rs80356898
rs80356898
11 0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.710 1.000 1 2003 2003
dbSNP: rs80357474
rs80357474
5 0.827 0.200 17 43049188 missense variant A/C;G;T snv 8.0E-06 0.710 1.000 1 2017 2017
dbSNP: rs80357522
rs80357522
10 0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06 0.700 0
dbSNP: rs80357678
rs80357678
5 0.851 0.200 17 43091614 frameshift variant AA/- del 0.700 0
dbSNP: rs799917
rs799917
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.060 0.667 6 2009 2019
dbSNP: rs748876625
rs748876625
10 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.040 0.750 4 2003 2013
dbSNP: rs1799950
rs1799950
13 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 0.030 0.667 3 2002 2018
dbSNP: rs41293459
rs41293459
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.030 1.000 3 2012 2019
dbSNP: rs16942
rs16942
3 0.882 0.080 17 43091983 missense variant T/A;C snv 0.35 0.31 0.020 1.000 2 2011 2011
dbSNP: rs1799966
rs1799966
8 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.020 0.500 2 2014 2019
dbSNP: rs747364414
rs747364414
3 0.882 0.080 17 43082496 missense variant C/T snv 4.0E-06 7.0E-06 0.020 0.500 2 2004 2010
dbSNP: rs80357060
rs80357060
2 0.925 0.080 17 43093169 missense variant C/T snv 8.0E-06 7.0E-06 0.020 1.000 2 2003 2007
dbSNP: rs80357125
rs80357125
3 0.882 0.080 17 43063940 missense variant C/A;G;T snv 0.020 1.000 2 2003 2006
dbSNP: rs80357610
rs80357610
7 0.851 0.160 17 43094550 frameshift variant GT/- delins 0.020 1.000 2 2010 2015
dbSNP: rs80357796
rs80357796
11 0.752 0.240 17 43094464 frameshift variant T/- del 0.020 0.500 2 2002 2008
dbSNP: rs1060502346
rs1060502346
3 0.925 0.080 17 43106513 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs11655505
rs11655505
8 0.776 0.160 17 43126360 intron variant G/A snv 0.31 0.010 < 0.001 1 2010 2010
dbSNP: rs1216516227
rs1216516227
2 0.925 0.080 17 43094612 missense variant T/C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12516
rs12516
4 0.851 0.160 17 43044391 3 prime UTR variant G/A snv 0.34 0.31 0.010 1.000 1 2014 2014
dbSNP: rs1252889664
rs1252889664
2 0.925 0.080 17 43093409 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs1328261486
rs1328261486
2 0.925 0.080 17 43094258 missense variant A/G snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1418676444
rs1418676444
2 0.925 0.080 17 43094626 missense variant G/A snv 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1489545368
rs1489545368
2 0.925 0.080 17 43067643 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs16940
rs16940
5 0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29 0.010 1.000 1 2016 2016