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: rs1131692245
rs1131692245
7 0.925 0.160 19 35844109 missense variant C/T snv 0.700 0
dbSNP: rs1163944538
rs1163944538
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs138504221
rs138504221
9 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 0
dbSNP: rs142110773
rs142110773
13 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs150726175
rs150726175
11 0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04 0.700 0
dbSNP: rs1555206402
rs1555206402
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs1555909961
rs1555909961
2 1.000 0.080 21 18398320 frameshift variant AGTGC/- del 0.700 0
dbSNP: rs370244148
rs370244148
6 0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 0.700 0
dbSNP: rs529855742
rs529855742
15 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs752914124
rs752914124
8 0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 0.700 0
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.030 1.000 3 2006 2019
dbSNP: rs1801019
rs1801019
4 0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 0.020 1.000 2 2006 2011
dbSNP: rs1448674651
rs1448674651
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.050 1.000 5 2009 2017
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2010 2017
dbSNP: rs2227983
rs2227983
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.020 0.500 2 2010 2010
dbSNP: rs1042597
rs1042597
3 2 233618225 missense variant C/G;T snv 0.27; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2032592
rs2032592
5 0.851 0.160 Y 12919473 3 prime UTR variant A/G snv 1.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs769107320
rs769107320
1 4 69108277 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs56038477
rs56038477
1 1 97573863 synonymous variant C/T snv 1.4E-02 1.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs17868320
rs17868320
1 2 233669782 intron variant C/T snv 4.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs67376798
rs67376798
9 0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 0.020 1.000 2 2014 2015