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: rs28933068
rs28933068
11 0.784 0.107 4 1805644 stop gained C/A,G,T snp 1.6E-05 0.900 0.952 29 1973 2016
dbSNP: rs80053154
rs80053154
2 0.923 0.107 4 1805636 missense variant A/G snp 1.2E-05 3.2E-05 0.820 1.000 3 1993 2001
dbSNP: rs77722678
rs77722678
1 1.000 0.107 4 1805643 stop lost A/C,G snp 4.0E-06 0.810 1.000 5 1993 2003
dbSNP: rs78311289
rs78311289
27 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.800 5 1993 2008
dbSNP: rs121913105
rs121913105
16 0.724 0.179 4 1806163 missense variant A/C,T snp 0.710 1.000 2 1993 2008
dbSNP: rs121913114
rs121913114
2 0.923 0.107 4 1801930 missense variant A/G,T snp 4.0E-06 0.700 2 2007 2008
dbSNP: rs121913115
rs121913115
2 1.000 0.107 4 1801928 missense variant A/G snp 0.700 2 1993 2007
dbSNP: rs121913116
rs121913116
1 1.000 0.107 4 1799395 missense variant C/T snp 0.700 2 1993 2007
dbSNP: rs28928868
rs28928868
3 0.923 0.107 4 1806164 missense variant G/C,T snp 4.0E-06 0.700 2 1993 2001
dbSNP: rs587778775
rs587778775
1 1.000 0.107 4 1803785 stop gained G/A,T snp 3.2E-05 0.700 2 1993 2014
dbSNP: rs587778769
rs587778769
1 1.000 0.107 4 1799488 missense variant A/T snp 0.700 1 1993 1993
dbSNP: rs587778773
rs587778773
1 1.000 0.107 4 1801886 missense variant C/T snp 4.1E-06 0.700 1 1993 1993
dbSNP: rs587778776
rs587778776
1 1.000 0.107 4 1804396 stop gained T/A,G snp 1.2E-05 0.700 1 1993 1993
dbSNP: rs587778801
rs587778801
1 1.000 0.107 4 1801518 synonymous variant C/T snp 0.700 1 1993 1993
dbSNP: rs587778811
rs587778811
1 1.000 0.107 4 1801896 missense variant G/T snp 0.700 1 1993 1993
dbSNP: rs587778816
rs587778816
1 1.000 0.107 4 1803731 missense variant C/A,G snp 0.700 1 1993 1993
dbSNP: rs587778817
rs587778817
1 1.000 0.107 4 1803744 stop lost A/G,T snp 4.0E-06 0.700 1 1993 1993
dbSNP: rs28931614
rs28931614
11 0.744 0.179 4 1804392 missense variant G/A,C snp 0.020 1.000 2 1995 2007
dbSNP: rs10790162
rs10790162
7 0.923 0.143 11 116768388 A/G snp 0.93 0.010 1.000 1 2015 2015
dbSNP: rs10889332
rs10889332
3 1.000 0.107 1 62485187 3 prime UTR variant C/T snp 0.38 0.010 1.000 1 2017 2017
dbSNP: rs11122316
rs11122316
2 1.000 0.107 1 230101356 intron variant A/G snp 0.42 0.010 1.000 1 2017 2017
dbSNP: rs11206517
rs11206517
3 1.000 0.107 1 55060755 intron variant T/C,G snp 8.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs1168013
rs1168013
4 1.000 0.107 1 62531167 intron variant C/G,T snp 0.59; 3.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1997947
rs1997947
2 1.000 0.107 1 230148017 intron variant G/A snp 0.76 0.010 1.000 1 2017 2017
dbSNP: rs2075290
rs2075290
9 0.923 0.143 11 116782580 intron variant C/G,T snp 0.92 0.010 1.000 1 2015 2015