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: rs17841327
rs17841327
1 16 55660341 intron variant A/C snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs199682734
rs199682734
1 6 154118718 synonymous variant C/T snv 8.1E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2287396
rs2287396
1 14 77327849 non coding transcript exon variant C/T snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs3740071
rs3740071
1 10 99830363 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs3766246
rs3766246
2 1 46399999 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs3783642
rs3783642
2 14 54893485 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs570874680
rs570874680
1 5 40764955 missense variant G/A snv 7.2E-05 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs574584
rs574584
1 8 26866167 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs949060
rs949060
1 18 77246982 upstream gene variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs9524885
rs9524885
2 13 95283335 intron variant T/C snv 0.63 0.010 1.000 1 2012 2012
dbSNP: rs9658498
rs9658498
1 12 117230720 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1553315329
rs1553315329
3 2 32116153 stop gained C/A;T snv 0.700 0
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: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2008 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2017 2017
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2012 2012
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: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2009 2012
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2011 2012
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: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2011 2011
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: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2009 2009