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: rs3918226
rs3918226
12 0.925 0.080 7 150993088 intron variant C/T snv 5.7E-02 0.700 1.000 4 2015 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.849 53 1998 2019
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.030 1.000 3 2016 2019
dbSNP: rs11771443
rs11771443
8 0.790 0.360 7 150990599 upstream gene variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs1541861
rs1541861
2 0.925 0.040 7 151000245 intron variant C/A snv 0.70 0.010 1.000 1 2016 2016
dbSNP: rs1808593
rs1808593
3 0.925 0.080 7 151011214 intron variant G/T snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs2853792
rs2853792
1 1.000 0.040 7 151002789 intron variant G/A snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs2853796
rs2853796
1 1.000 0.040 7 151006827 intron variant G/T snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs375752214
rs375752214
22 0.708 0.400 7 150998541 missense variant C/T snv 4.1E-06 4.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs3918188
rs3918188
10 0.776 0.280 7 151005693 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs61722009
rs61722009
2 0.925 0.120 7 150997170 intron variant AGGGGTGAGGAAGTCTAGACCTGCTGC/-;AGGGGTGAGGAAGTCTAGACCTGCTGCAGGGGTGAGGAAGTCTAGACCTGCTGC delins 0.010 < 0.001 1 2015 2015
dbSNP: rs753482
rs753482
3 0.925 0.040 7 151009295 intron variant C/A;G;T snv 0.83; 4.0E-05; 3.1E-05; 4.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs7830
rs7830
11 0.763 0.320 7 151012483 3 prime UTR variant G/T snv 0.38 0.32 0.010 1.000 1 2016 2016
dbSNP: rs869109213
rs869109213
10 0.790 0.200 7 150997269 intron variant GGGGGTGAGGAAGTCTAGACCTGCTGCG/A delins 0.010 1.000 1 2019 2019
dbSNP: rs891512
rs891512
4 0.925 0.040 7 151011001 intron variant A/G snv 0.84 0.85 0.010 1.000 1 2017 2017