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: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913254
rs121913254
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 91 2004 2020
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 91 2004 2020
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.090 1.000 9 2012 2018
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.030 1.000 3 2015 2016
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.030 1.000 3 2015 2016
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.030 1.000 3 2015 2016
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.030 1.000 3 2015 2019
dbSNP: rs121913368
rs121913368
2 0.925 0.040 7 140753345 missense variant AG/GA mnv 0.020 1.000 2 2012 2018
dbSNP: rs1024708183
rs1024708183
4 0.925 0.040 19 7909761 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs104894095
rs104894095
6 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs121913255
rs121913255
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs121913355
rs121913355
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913364
rs121913364
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121913366
rs121913366
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121913378
rs121913378
11 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs745382803
rs745382803
1 1.000 0.040 3 69965076 missense variant C/A;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs750697353
rs750697353
4 0.882 0.080 3 12608919 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs755753950
rs755753950
1 1.000 0.040 22 40405688 missense variant G/A snv 4.4E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs993022333
rs993022333
KIT
5 0.851 0.080 4 54733173 missense variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1204056923
rs1204056923
1 1.000 0.040 2 178590160 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs1238066548
rs1238066548
1 1.000 0.040 19 38595699 missense variant G/A;T snv 0.700 0
dbSNP: rs1277219458
rs1277219458
1 1.000 0.040 2 241143002 missense variant C/T snv 0.700 0
dbSNP: rs1451501407
rs1451501407
1 1.000 0.040 17 8006628 missense variant G/A snv 0.700 0