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: rs11558538
rs11558538
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.030 0.667 3 2005 2011
dbSNP: rs896543
rs896543
3 1.000 0.080 2 236600564 intergenic variant G/A snv 0.33 0.800 1.000 2 2013 2014
dbSNP: rs1017418
rs1017418
1 1.000 0.080 2 51821024 intron variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs10196867
rs10196867
5 0.925 0.080 2 79751234 intron variant C/G;T snv 0.710 1.000 1 2019 2019
dbSNP: rs10198241
rs10198241
4 0.925 0.080 2 226115660 intergenic variant T/C snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs10211296
rs10211296
3 1.000 0.080 2 165633833 intron variant A/G snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs10496768
rs10496768
1 1.000 0.080 2 137322384 intron variant G/A snv 9.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs11681792
rs11681792
4 1.000 0.080 2 49957256 intron variant C/T snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2019 2019
dbSNP: rs1437396
rs1437396
3 1.000 0.080 2 55278320 upstream gene variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1660895
rs1660895
3 1.000 0.080 2 129236759 intergenic variant A/T snv 0.52 0.700 1.000 1 2014 2014
dbSNP: rs181048070
rs181048070
3 1.000 0.080 2 59316241 intron variant G/A snv 1.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs1869324
rs1869324
1 1.000 0.080 2 137469872 intron variant G/A snv 7.9E-02 0.700 1.000 1 2011 2011
dbSNP: rs2253612
rs2253612
3 1.000 0.080 2 200703710 intron variant C/T snv 0.79 0.700 1.000 1 2015 2015
dbSNP: rs2952621
rs2952621
4 0.882 0.080 2 129240870 downstream gene variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs35349697
rs35349697
3 0.882 0.080 2 207560294 synonymous variant G/A snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs371308207
rs371308207
C1D
4 0.882 0.080 2 68047303 missense variant C/A;T snv 4.1E-06; 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs3771829
rs3771829
9 0.790 0.120 2 75137019 intron variant C/G snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs3771856
rs3771856
3 0.882 0.080 2 75186888 non coding transcript exon variant G/A snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs3917328
rs3917328
2 1.000 0.080 2 102178081 3 prime UTR variant C/G;T snv 5.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs523349
rs523349
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.010 1.000 1 2012 2012
dbSNP: rs540606
rs540606
3 1.000 0.080 2 44911368 intergenic variant A/G snv 0.66 0.700 1.000 1 2019 2019
dbSNP: rs55702914
rs55702914
4 0.925 0.080 2 197349672 intergenic variant C/G snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs56013859
rs56013859
2 0.925 0.080 2 238276865 intron variant T/C snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs570436
rs570436
3 1.000 0.080 2 44915534 intergenic variant C/T snv 0.69 0.700 1.000 1 2019 2019