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: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs1143633
rs1143633
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.030 1.000 3 2016 2019
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2009 2009
dbSNP: rs1801028
rs1801028
24 0.716 0.200 11 113412762 missense variant G/C snv 2.7E-02 1.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs2075652
rs2075652
1 1.000 0.040 11 113424176 intron variant G/A snv 4.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs7131056
rs7131056
6 0.827 0.200 11 113459052 intron variant A/C snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs12364283
rs12364283
3 0.925 0.080 11 113476233 upstream gene variant A/G snv 5.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs9868039
rs9868039
1 1.000 0.040 3 114127695 3 prime UTR variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs2251177
rs2251177
1 1.000 0.040 3 114139503 missense variant C/A;T snv 8.0E-06; 0.99 0.010 1.000 1 2014 2014
dbSNP: rs363276
rs363276
1 1.000 0.040 10 117274298 intron variant T/C;G snv 0.020 1.000 2 2014 2018
dbSNP: rs10744891
rs10744891
1 1.000 0.040 12 117284536 intron variant G/T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs56242606
rs56242606
2 1.000 0.040 7 12382283 intron variant T/C snv 5.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs58649573
rs58649573
1 1.000 0.040 9 124005148 intron variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs6470292
rs6470292
2 1.000 0.040 8 124855801 intron variant A/G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs16904179
rs16904179
1 1.000 0.040 8 129946705 intron variant G/A snv 6.2E-02 0.800 1.000 1 2013 2013
dbSNP: rs263232
rs263232
1 1.000 0.040 8 130795923 intron variant C/A snv 6.7E-02 0.800 1.000 1 2014 2014
dbSNP: rs28363170
rs28363170
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs451275
rs451275
1 1.000 0.040 5 142392033 intron variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs41423247
rs41423247
23 0.695 0.440 5 143399010 intron variant G/C snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2005 2005
dbSNP: rs6189
rs6189
6 0.827 0.240 5 143400774 missense variant C/A;T snv 4.0E-06; 1.8E-02 0.010 1.000 1 2018 2018