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: rs10966811
rs10966811
2 1.000 0.040 9 25233486 intergenic variant G/A snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs12376894
rs12376894
1 1.000 0.040 9 25268869 intergenic variant A/G snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs724078
rs724078
3 0.925 0.040 6 29521271 intergenic variant G/A snv 0.41 0.010 < 0.001 1 2015 2015
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
dbSNP: rs121918346
rs121918346
5 0.882 0.040 3 16598169 missense variant T/C;G snv 8.0E-06 0.020 0.500 2 2002 2005
dbSNP: rs16999593
rs16999593
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs2228611
rs2228611
19 0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs1042064
rs1042064
2 0.925 0.040 8 27544615 3 prime UTR variant T/C snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs12870438
rs12870438
3 0.925 0.040 13 42906069 intron variant G/A snv 0.27 0.020 1.000 2 2015 2018
dbSNP: rs10835638
rs10835638
2 0.925 0.080 11 30230805 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6166
rs6166
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.020 1.000 2 2010 2011
dbSNP: rs6165
rs6165
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.010 1.000 1 2011 2011
dbSNP: rs104893837
rs104893837
6 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.010 1.000 1 2006 2006
dbSNP: rs2274911
rs2274911
6 0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74 0.010 1.000 1 2016 2016
dbSNP: rs1138272
rs1138272
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2013 2013
dbSNP: rs553509
rs553509
3 0.925 0.040 X 104013293 missense variant T/C snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs200750564
rs200750564
6 0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs3819392
rs3819392
KIT
2 1.000 0.040 4 54660528 intron variant G/A snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs4474514
rs4474514
6 0.827 0.240 12 88560182 intron variant G/A snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs995030
rs995030
9 0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs6080550
rs6080550
5 0.851 0.040 20 1778944 intron variant C/G;T snv 9.6E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs7867029
rs7867029
3 0.925 0.040 9 78405502 intergenic variant G/C snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs4647269
rs4647269
2 0.925 0.040 3 37016100 intron variant C/T snv 0.35 0.020 1.000 2 2012 2019
dbSNP: rs786203623
rs786203623
2 0.925 0.040 3 37017520 missense variant T/A;C snv 0.010 1.000 1 2012 2012