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: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2011 2013
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: rs4647269
rs4647269
2 0.925 0.040 3 37016100 intron variant C/T snv 0.35 0.020 1.000 2 2012 2019
dbSNP: rs7174015
rs7174015
3 0.925 0.040 15 50424871 intron variant G/A;T snv 0.020 1.000 2 2015 2018
dbSNP: rs10269148
rs10269148
2 0.925 0.040 7 135230056 upstream gene variant C/A;G snv 0.010 1.000 1 2013 2013
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: rs1059060
rs1059060
3 0.925 0.040 7 5977709 missense variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs10835638
rs10835638
2 0.925 0.080 11 30230805 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10842262
rs10842262
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.010 < 0.001 1 2019 2019
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: rs11046992
rs11046992
1 1.000 0.040 12 23584632 intron variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2013 2013
dbSNP: rs12348
rs12348
3 0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44 0.010 < 0.001 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: rs1248142939
rs1248142939
2 0.925 0.040 7 5992006 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs144944885
rs144944885
2 1.000 0.040 22 50776482 intron variant G/- delins 0.010 1.000 1 2017 2017
dbSNP: rs1800734
rs1800734
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs2232015
rs2232015
1 1.000 0.040 1 107056636 upstream gene variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2477686
rs2477686
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.010 < 0.001 1 2019 2019
dbSNP: rs2656927
rs2656927
1 1.000 0.040 19 4908263 intron variant C/T snv 1.0E-01 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2016 2016
dbSNP: rs2973631
rs2973631
1 1.000 0.040 5 23528117 3 prime UTR variant C/T snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs3197744
rs3197744
1 1.000 0.040 20 1937841 3 prime UTR variant G/T snv 0.50 0.010 1.000 1 2013 2013
dbSNP: rs3791185
rs3791185
1 1.000 0.040 1 107058247 3 prime UTR variant G/A snv 0.14 0.010 1.000 1 2013 2013
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