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: rs760112920
rs760112920
KIT
2 0.925 0.120 4 54731930 missense variant G/T snv 4.0E-06 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs763375936
rs763375936
ATG3
5 0.827 0.160 3 112532749 missense variant C/T snv 8.3E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs772776695
rs772776695
ATG3
5 0.827 0.160 3 112548576 missense variant T/A snv 4.0E-06 0.010 1.000 1 2017 2017