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: rs10206089
rs10206089
4 2 61476184 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs10858740
rs10858740
5 12 88451258 intergenic variant A/G;T snv 0.56 0.700 1.000 1 2016 2016
dbSNP: rs114050631
rs114050631
5 2 218156235 regulatory region variant C/T snv 6.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs11725704
rs11725704
5 4 74094279 downstream gene variant A/G snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs11769630
rs11769630
4 7 50218107 intron variant T/A snv 5.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs12542907
rs12542907
5 8 67900953 intergenic variant C/G snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs12600856
rs12600856
5 17 40007042 intergenic variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs12752838
rs12752838
4 1 8853597 upstream gene variant A/G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs138488218
rs138488218
4 12 53354069 regulatory region variant A/T snv 7.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs143699489
rs143699489
4 3 141208279 intergenic variant A/G snv 0.22 0.700 1.000 1 2016 2016
dbSNP: rs200638392
rs200638392
5 6 87128241 intergenic variant GAT/-;GATGAT delins 0.47 0.700 1.000 1 2016 2016
dbSNP: rs201950044
rs201950044
5 1 161639782 intergenic variant G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs2082382
rs2082382
5 5 148820990 upstream gene variant G/A snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs218265
rs218265
10 4 54542832 intergenic variant T/C snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs2338224
rs2338224
5 5 72432861 intergenic variant A/G snv 0.85 0.700 1.000 1 2016 2016
dbSNP: rs2734031
rs2734031
1 3 128582547 intergenic variant T/C snv 0.90 0.700 1.000 1 2016 2016
dbSNP: rs2954031
rs2954031
9 8 125479491 intron variant G/T snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs34762051
rs34762051
5 17 40007650 downstream gene variant AA/-;A;AAA delins 0.31 0.700 1.000 1 2016 2016
dbSNP: rs385893
rs385893
9 0.925 0.080 9 4763176 downstream gene variant T/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs397933924
rs397933924
5 10 97314229 upstream gene variant -/CAGGTTCAAGCGA ins 0.700 1.000 1 2016 2016
dbSNP: rs4761234
rs4761234
5 12 69338325 TF binding site variant T/C snv 0.36 0.700 1.000 1 2016 2016
dbSNP: rs552557467
rs552557467
4 11 47927817 regulatory region variant AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA/-;AA;AAA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAA;AAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA delins 0.47 0.700 1.000 1 2016 2016
dbSNP: rs56232812
rs56232812
4 1 27859995 intergenic variant A/C snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs575404063
rs575404063
4 19 18405498 intergenic variant AAA/-;A;AA;AAAA;AAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs58548501
rs58548501
4 4 54635119 intergenic variant -/A;ATTTTTTTTTA ins 0.43 0.700 1.000 1 2016 2016