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: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.957 23 2003 2019
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.040 1.000 4 2001 2018
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.030 0.667 3 2010 2018
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.020 1.000 2 2011 2017
dbSNP: rs208294
rs208294
9 0.790 0.320 12 121162450 missense variant T/A;C;G snv 0.51 0.020 1.000 2 2011 2012
dbSNP: rs878567
rs878567
4 0.882 0.040 5 63960164 intron variant A/C;G snv 0.020 1.000 2 2010 2013
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 0.500 2 2006 2013
dbSNP: rs10156548
rs10156548
2 1.000 0.040 9 23318435 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs1055447
rs1055447
2 1.000 0.040 11 47164873 3 prime UTR variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10965780
rs10965780
3 1.000 0.040 9 23341717 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11599236
rs11599236
2 1.000 0.040 10 104694914 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs11605020
rs11605020
2 1.000 0.040 11 127110970 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs11693031
rs11693031
2 1.000 0.040 2 211813206 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1170191
rs1170191
1 13 42101357 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11826064
rs11826064
2 1.000 0.040 11 50818695 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12030991
rs12030991
2 1.000 0.040 1 106683737 intergenic variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1289543302
rs1289543302
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs12938775
rs12938775
2 1.000 0.040 17 2671527 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12963463
rs12963463
3 1.000 0.040 18 55431862 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs13060816
rs13060816
BBX
2 1.000 0.040 3 107561639 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1360380
rs1360380
2 1.000 0.040 9 23378490 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1409851868
rs1409851868
6 0.882 0.080 3 89399325 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1422192
rs1422192
2 1.000 0.040 5 88663205 intron variant G/A;T snv 0.700 1.000 1 2018 2018