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: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2018 2018
dbSNP: rs10830963
rs10830963
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 < 0.001 1 2018 2018
dbSNP: rs10988134
rs10988134
4 0.925 0.080 9 128833128 3 prime UTR variant C/T snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs115482041
rs115482041
4 0.925 0.080 9 4860267 missense variant C/T snv 2.6E-03 2.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs17759843
rs17759843
4 0.882 0.080 22 21920372 3 prime UTR variant G/A snv 6.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs1799913
rs1799913
5 0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33 0.010 1.000 1 2018 2018
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.010 1.000 1 2018 2018
dbSNP: rs1818879
rs1818879
7 0.827 0.120 7 22733108 downstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs2077647
rs2077647
16 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 0.010 1.000 1 2018 2018
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs228697
rs228697
5 0.882 0.080 1 7827519 missense variant C/G snv 8.7E-02 7.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs3093077
rs3093077
9 0.827 0.200 1 159709846 upstream gene variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs34436714
rs34436714
7 0.851 0.120 19 53824059 missense variant C/A;T snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs3730358
rs3730358
14 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 0.010 1.000 1 2018 2018
dbSNP: rs3796863
rs3796863
8 0.790 0.160 4 15848363 intron variant G/T snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs397515453
rs397515453
11 0.752 0.440 5 68296301 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 1.000 1 2018 2018
dbSNP: rs4606
rs4606
16 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4672619
rs4672619
4 0.882 0.160 2 211592470 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2018 2018
dbSNP: rs528732638
rs528732638
5 0.851 0.120 18 26940224 intron variant A/-;AA;AAA;AAAA delins 0.010 1.000 1 2018 2018
dbSNP: rs57875989
rs57875989
7 0.882 0.080 1 7829913 splice acceptor variant GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC delins 0.11 0.18 0.010 1.000 1 2018 2018
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2018 2018