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: rs80359584
rs80359584
8 0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 0.700 0
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 1999 1999
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 1999 1999
dbSNP: rs1355972653
rs1355972653
3 0.882 0.120 21 33415009 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs34777958
rs34777958
1 1.000 0.040 16 84176003 missense variant C/T snv 9.8E-03 1.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs3808350
rs3808350
6 0.882 0.080 7 1086257 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3808351
rs3808351
7 0.827 0.240 7 1087023 5 prime UTR variant G/A snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs7371084
rs7371084
3 0.925 0.120 2 48712814 intron variant T/C snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs745738344
rs745738344
TNF
28 0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs9397080
rs9397080
2 1.000 0.040 6 152059380 intron variant C/T snv 0.22 0.010 1.000 1 2012 2012