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: rs11016879
rs11016879
4 0.882 0.040 10 129691518 intron variant A/C;G snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs1380576
rs1380576
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.010 1.000 1 2011 2011
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs17084687
rs17084687
KIT
1 1.000 0.040 4 54716231 intron variant C/T snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs1972597
rs1972597
2 1.000 0.040 17 77598082 intron variant T/C snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs2012775
rs2012775
2 1.000 0.040 9 115141569 intron variant T/C snv 0.30 0.010 1.000 1 2010 2010
dbSNP: rs2237025
rs2237025
KIT
3 0.882 0.080 4 54675713 intron variant T/C snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs2238151
rs2238151
3 1.000 0.040 12 111774029 intron variant T/C snv 0.52 0.010 1.000 1 2011 2011
dbSNP: rs2498804
rs2498804
8 0.827 0.160 14 104766758 intron variant C/A;T snv 0.40 0.33 0.010 1.000 1 2015 2015
dbSNP: rs3213183
rs3213183
1 1.000 0.040 20 33675156 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs3218148
rs3218148
1 1.000 0.040 1 23525295 intron variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs3218203
rs3218203
1 1.000 0.040 1 23511068 intron variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs3810294
rs3810294
3 0.882 0.120 19 47228572 intron variant C/T snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs3813867
rs3813867
13 0.732 0.240 10 133526101 intron variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs3862188
rs3862188
2 1.000 0.040 1 247702471 intron variant T/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2010 2010
dbSNP: rs4150351
rs4150351
2 0.925 0.160 13 102870617 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs4663402
rs4663402
4 0.851 0.080 2 233285017 intron variant A/T snv 5.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs6581580
rs6581580
1 1.000 0.040 12 64609189 intron variant T/C;G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs6970262
rs6970262
1 1.000 0.040 7 55192070 intron variant A/G snv 0.66 0.010 1.000 1 2015 2015
dbSNP: rs8136867
rs8136867
4 0.882 0.080 22 21850504 intron variant G/A snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs845561
rs845561
1 1.000 0.040 7 55185015 intron variant C/T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs180127
rs180127
2 0.925 0.040 17 69923642 intergenic variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs229811
rs229811
1 1.000 0.040 14 83448259 intergenic variant G/C snv 4.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs11599672
rs11599672
3 0.925 0.080 10 93993019 regulatory region variant T/G snv 0.21 0.010 1.000 1 2011 2011