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: rs8046148
rs8046148 		2 1.000 0.120 16 50109033 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 0
dbSNP: rs11547328
rs11547328
CDK4
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs76308115
rs76308115
PDE11A
5 0.851 0.080 2 178014454 stop gained G/A snv 2.9E-03 2.9E-03 0.010 1.000 1 2011 2011
dbSNP: rs771138120
rs771138120
CDKN2A
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.010 1.000 1 2003 2003
dbSNP: rs79903863
rs79903863
PDE11A
1 2 177669537 stop gained C/A;G;T snv 2.2E-04; 1.6E-05 0.010 1.000 1 2011 2011