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: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.020 0.500 2 2005 2013
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.010 1.000 1 2016 2016
dbSNP: rs1048943
rs1048943
53 0.572 0.571 15 74720644 missense variant T/C snp 0.11 5.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs111033563
rs111033563
6 0.801 0.214 6 26092916 missense variant A/C snp 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1137101
rs1137101
41 0.605 0.679 1 65592830 missense variant A/G snp 0.51 0.53 0.010 1.000 1 2007 2007
dbSNP: rs11978267
rs11978267
6 0.821 0.143 7 50398606 intron variant A/G snp 0.25 0.010 1.000 1 2016 2016
dbSNP: rs121434592
rs121434592
56 0.582 0.500 14 104780214 missense variant C/T snp 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs121918464
rs121918464
15 0.756 0.321 12 112450406 missense variant G/A,C snp 0.010 1.000 1 2011 2011
dbSNP: rs1532268
rs1532268
5 0.878 0.107 5 7878066 missense variant C/T snp 0.31 0.32 0.010 1.000 1 2013 2013
dbSNP: rs1799945
rs1799945
152 0.475 0.679 6 26090951 missense variant C/G snp 0.11 9.9E-02 0.010 1.000 1 2005 2005
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs1801131
rs1801131
49 0.599 0.607 1 11794419 missense variant T/G snp 0.29 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1801133
rs1801133
86 0.533 0.714 1 11796321 missense variant G/A snp 0.31 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1801394
rs1801394
60 0.577 0.643 5 7870860 missense variant A/G snp 0.47 0.46 0.010 1.000 1 2013 2013
dbSNP: rs2239633
rs2239633
12 0.756 0.143 14 23119848 regulatory region variant G/A snp 0.39 0.010 1.000 1 2016 2016
dbSNP: rs3745274
rs3745274
16 0.744 0.393 19 41006936 missense variant G/A,T snp 4.0E-06; 0.27 0.26 0.010 1.000 1 2011 2011
dbSNP: rs387906659
rs387906659
8 0.769 0.214 19 40257052 stop gained C/A,T snp 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.010 1.000 1 2013 2013
dbSNP: rs397514606
rs397514606
9 0.769 0.214 1 243695714 missense variant C/T snp 0.010 1.000 1 2008 2008
dbSNP: rs4132601
rs4132601
6 0.821 0.143 7 50402906 3 prime UTR variant T/G snp 0.25 0.010 1.000 1 2016 2016
dbSNP: rs767464424
rs767464424
3 0.923 0.071 2 37222420 frameshift variant GT/G in-del 4.2E-06; 4.2E-06; 4.2E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs777017502
rs777017502
3 0.923 0.071 2 37222420 missense variant T/C,G snp 4.2E-06; 4.2E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs780246573
rs780246573
10 0.744 0.321 6 26092860 stop gained C/G,T snp 4.0E-06; 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs797045145
rs797045145
4 0.846 0.214 6 26091479 stop gained G/A snp 0.010 1.000 1 2005 2005
dbSNP: rs80338880
rs80338880
10 0.744 0.321 7 100633100 stop gained G/C snp 3.2E-05 0.010 1.000 1 2005 2005