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: rs2076530
rs2076530
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.900 0.933 15 2005 2019
dbSNP: rs479777
rs479777
1 1.000 0.040 11 64340005 upstream gene variant T/C snv 0.27 0.810 1.000 1 2012 2012
dbSNP: rs1953600
rs1953600
1 1.000 0.040 10 80151969 3 prime UTR variant C/T snv 0.37 0.800 1.000 2 2008 2013
dbSNP: rs1964995
rs1964995
2 0.925 0.160 6 32481634 intergenic variant T/C snv 0.34 0.800 1.000 2 2012 2016
dbSNP: rs1049550
rs1049550
4 0.882 0.160 10 80166946 missense variant G/A;C snv 0.42; 4.2E-06 0.770 1.000 7 2008 2018
dbSNP: rs2789679
rs2789679
1 1.000 0.040 10 80148128 downstream gene variant A/T snv 0.37 0.720 1.000 3 2008 2016
dbSNP: rs2573346
rs2573346
1 1.000 0.040 10 80158285 intron variant G/A snv 0.36 0.710 1.000 2 2008 2016
dbSNP: rs3817963
rs3817963
8 0.776 0.360 6 32400310 intron variant T/C snv 0.25 0.710 1.000 2 2012 2013
dbSNP: rs9268839
rs9268839
2 0.925 0.160 6 32460995 intron variant A/G snv 0.38 0.710 1.000 2 2012 2013
dbSNP: rs715299
rs715299
1 1.000 0.040 6 32222064 intron variant T/A;G snv 0.710 1.000 1 2012 2012
dbSNP: rs7194
rs7194
7 0.827 0.280 6 32444703 3 prime UTR variant G/A snv 0.61 0.700 1.000 2 2008 2012
dbSNP: rs9268402
rs9268402
5 0.827 0.200 6 32373576 intron variant G/A snv 0.45 0.700 1.000 2 2008 2012
dbSNP: rs10162249
rs10162249
1 1.000 0.040 13 25849519 intron variant T/C snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10467674
rs10467674
1 1.000 0.040 13 25854100 intron variant T/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10484399
rs10484399
4 0.851 0.240 6 27566749 intergenic variant A/G snv 5.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs111877852
rs111877852
1 1.000 0.040 6 32378632 intron variant AGATAGAT/-;AGAT;AGATAGATAGAT;AGATAGATAGATAGAT;AGATAGATAGATAGATAGAT;AGATAGATAGATAGATAGATAGAT;AGATAGATAGATAGATAGATAGATAGAT delins 3.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs112198380
rs112198380
1 1.000 0.040 13 25855238 intron variant A/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs11244
rs11244
2 0.925 0.160 6 32812947 3 prime UTR variant G/A snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs112668322
rs112668322
1 1.000 0.040 6 33606422 intergenic variant G/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs113520250
rs113520250
1 1.000 0.040 6 32587108 intron variant C/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs113585425
rs113585425
1 1.000 0.040 6 32465348 intron variant A/C snv 7.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs113653545
rs113653545
1 1.000 0.040 6 32482426 intergenic variant C/T snv 8.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs114060570
rs114060570
1 1.000 0.040 6 32485791 intergenic variant C/T snv 9.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs114480004
rs114480004
1 1.000 0.040 6 32623583 upstream gene variant G/C snv 4.8E-02 0.700 1.000 1 2012 2012
dbSNP: rs114549185
rs114549185
1 1.000 0.040 6 32633427 intron variant C/G snv 5.2E-02 0.700 1.000 1 2012 2012