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: rs28933385
rs28933385
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.900 1.000 44 1990 2019
dbSNP: rs74315408
rs74315408
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.900 1.000 27 1990 2019
dbSNP: rs1799990
rs1799990
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.900 1.000 14 1996 2015
dbSNP: rs74315407
rs74315407
15 0.732 0.240 20 4699848 missense variant G/A snv 8.0E-06 2.1E-05 0.870 1.000 18 1990 2016
dbSNP: rs398122370
rs398122370
4 0.925 0.160 20 4699851 missense variant G/C snv 0.830 1.000 13 1990 2010
dbSNP: rs74315403
rs74315403
10 0.790 0.200 20 4699752 missense variant G/A snv 0.800 0.955 22 1990 2015
dbSNP: rs1460163
rs1460163
1 1.000 0.120 8 79315213 downstream gene variant G/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs4921542
rs4921542
1 1.000 0.120 8 17348068 intron variant T/G snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs6107516
rs6107516
2 1.000 0.120 20 4696446 intron variant G/A snv 0.23 0.800 1.000 1 2012 2012
dbSNP: rs6116492
rs6116492
1 1.000 0.120 20 4717980 upstream gene variant G/T snv 7.0E-02 0.800 1.000 1 2012 2012
dbSNP: rs7565981
rs7565981
1 1.000 0.120 2 100807869 intergenic variant G/A snv 0.15 0.800 1.000 1 2012 2012
dbSNP: rs74315409
rs74315409
13 0.742 0.240 20 4699915 missense variant T/G snv 6.0E-05 2.1E-05 0.770 1.000 18 1990 2013
dbSNP: rs74315412
rs74315412
5 0.851 0.120 20 4699843 missense variant G/A snv 6.0E-05 3.5E-05 0.750 1.000 16 1990 2014
dbSNP: rs776593792
rs776593792
2 1.000 0.120 20 4699827 missense variant G/A snv 1.6E-05 2.8E-05 0.730 1.000 3 2000 2014
dbSNP: rs16840647
rs16840647
1 1.000 0.120 1 240799770 intron variant A/G snv 4.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs2065706
rs2065706
1 1.000 0.120 20 4702649 downstream gene variant T/C snv 0.17 0.700 1.000 1 2012 2012
dbSNP: rs3863150
rs3863150
1 1.000 0.120 5 41506758 intron variant T/C snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs6052780
rs6052780
1 1.000 0.120 20 4708828 intergenic variant G/A;T snv 7.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs676328
rs676328
1 1.000 0.120 5 41505587 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs8074026
rs8074026
3 0.882 0.160 17 1753779 intron variant T/C snv 0.71 0.700 1.000 1 2012 2012
dbSNP: rs193922906
rs193922906
4 0.882 0.160 20 4699380 inframe insertion TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC delins 0.700 0
dbSNP: rs1800014
rs1800014
11 0.776 0.200 20 4699875 missense variant G/A snv 8.0E-03 2.2E-03 0.070 1.000 7 1998 2015
dbSNP: rs767181086
rs767181086
11 0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.050 1.000 5 1997 2019
dbSNP: rs74315401
rs74315401
32 0.683 0.320 20 4699525 missense variant C/T snv 0.040 1.000 4 1995 2013
dbSNP: rs769346296
rs769346296
1 1.000 0.120 20 4699807 missense variant A/C snv 6.0E-05 2.8E-05 0.030 1.000 3 2014 2019