Source: ALL
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: rs121913250
rs121913250
14 0.724 0.286 1 114716127 missense variant C/A,G,T snp 0.700 1 1986 1986
dbSNP: rs104894421
rs104894421
5 0.821 0.214 13 108210436 missense variant C/A,T snp 1.2E-05 3.2E-05 0.700 0
dbSNP: rs61753793
rs61753793
5 0.821 0.107 2 47799002 missense variant T/C snp 3.6E-05 3.2E-05 0.700 0
dbSNP: rs6413463
rs6413463
1 1.000 0.036 9 21970990 missense variant A/G,T snp 2.9E-05; 3.0E-04 3.2E-05; 1.4E-03 0.700 0
dbSNP: rs121913459
rs121913459
16 0.707 0.143 9 130872896 missense variant C/T snp 0.100 1.000 13 2005 2015
dbSNP: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.070 0.714 7 2005 2015
dbSNP: rs121434592
rs121434592
56 0.582 0.500 14 104780214 missense variant C/T snp 4.0E-06 0.050 1.000 5 2008 2010
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.040 1.000 4 2011 2015
dbSNP: rs121913507
rs121913507
KIT
35 0.638 0.286 4 54733155 missense variant A/T snp 0.040 1.000 4 2007 2010
dbSNP: rs25487
rs25487
119 0.485 0.679 19 43551574 missense variant T/C snp 0.68 0.72 0.030 1.000 3 2014 2015
dbSNP: rs587782746
rs587782746
NBN
15 0.724 0.250 8 89970506 missense variant T/C snp 4.0E-06 0.030 1.000 3 2008 2014
dbSNP: rs61754966
rs61754966
NBN
16 0.715 0.250 8 89978293 missense variant T/C,G snp 1.2E-03 3.9E-03 0.030 1.000 3 2008 2014
dbSNP: rs748843032
rs748843032
5 0.846 0.107 4 99594840 missense variant T/C snp 4.0E-06 0.030 1.000 3 2008 2013
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.020 0.500 2 2013 2017
dbSNP: rs121913237
rs121913237
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.020 1.000 2 2011 2015
dbSNP: rs121913502
rs121913502
15 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.020 1.000 2 2015 2015
dbSNP: rs121913514
rs121913514
KIT
9 0.784 0.214 4 54733174 stop gained T/A,G snp 0.020 1.000 2 2011 2012
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.020 1.000 2 2003 2005
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.020 1.000 2 2001 2006
dbSNP: rs861539
rs861539
60 0.561 0.464 14 103699416 missense variant G/A snp 0.29 0.29 0.020 1.000 2 2014 2015
dbSNP: rs1042522
rs1042522
56 0.563 0.643 17 7676154 stop gained G/C,T snp 0.67 0.62 0.010 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.010 1.000 1 2012 2012
dbSNP: rs10821936
rs10821936
8 0.784 0.107 10 61963818 intron variant C/T snp 0.72 0.010 1.000 1 2014 2014
dbSNP: rs10931910
rs10931910
2 1.000 0.036 2 200659013 intron variant A/G,T snp 0.51 0.010 < 0.001 1 2014 2014