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: rs797044481
rs797044481
1 12 12717966 stop gained CC/CTAA in-del 0.700 1 2015 2015
dbSNP: rs797044482
rs797044482
1 12 12718118 frameshift variant G/GT in-del 0.700 1 2015 2015
dbSNP: rs797044483
rs797044483
1 12 12718173 frameshift variant GA/G in-del 0.700 1 2015 2015
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121908586
rs121908586
4 4 54274869 missense variant T/A,C snp 0.010 < 0.001 1 2007 2007
dbSNP: rs121913521
rs121913521
KIT
7 0.846 0.071 4 54727447 missense variant T/A,C,G snp 0.010 < 0.001 1 2007 2007