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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs1180302996
rs1180302996
1 1.000 0.080 9 95480007 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 < 0.001 1 2006 2006
dbSNP: rs121913680
rs121913680
KIT
3 0.925 0.200 4 54727515 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1275825411
rs1275825411
1 1.000 0.080 12 57467380 synonymous variant G/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs2228225
rs2228225
1 1.000 0.080 12 57465648 missense variant G/A;C snv 0.50 0.47 0.010 1.000 1 2017 2017
dbSNP: rs3822214
rs3822214
KIT
13 0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs767132637
rs767132637
3 1.000 0.080 7 106867617 missense variant G/A snv 1.6E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs770138808
rs770138808
SMO
1 1.000 0.080 7 129205241 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs780893190
rs780893190
SHH
1 1.000 0.080 7 155803713 synonymous variant C/T snv 8.8E-06 3.5E-05 0.010 1.000 1 2017 2017