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: rs1042718
rs1042718
3 0.925 0.080 5 148827354 missense variant C/A;T snv 0.23; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2012 2018
dbSNP: rs1057518925
rs1057518925
4 1.000 0.120 21 46114006 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1057523354
rs1057523354
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs1082214
rs1082214
MIP
6 0.925 0.080 12 56452706 non coding transcript exon variant C/T snv 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs11214105
rs11214105
2 1.000 0.120 11 112166930 intron variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs1212171
rs1212171
8 0.851 0.120 9 84667612 upstream gene variant C/T snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
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: rs121918459
rs121918459
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1289543302
rs1289543302
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1331463984
rs1331463984
33 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
dbSNP: rs139194636
rs139194636
6 0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 0.700 0
dbSNP: rs151344517
rs151344517
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs1553315329
rs1553315329
3 2 32116153 stop gained C/A;T snv 0.700 0
dbSNP: rs1553621496
rs1553621496
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1554317002
rs1554317002
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1555366607
rs1555366607
5 1.000 0.080 14 64767787 missense variant A/G snv 0.700 0
dbSNP: rs1555889984
rs1555889984
5 0.925 0.120 21 34834536 stop gained C/A snv 0.700 0
dbSNP: rs1559931177
rs1559931177
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs1560755661
rs1560755661
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 0.500 2 2011 2012
dbSNP: rs17841327
rs17841327
1 16 55660341 intron variant A/C snv 0.63 0.010 1.000 1 2017 2017