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: rs1560419312
rs1560419312
KIT
4 1.000 0.120 4 54729344 missense variant T/G snv 0.700 0
dbSNP: rs1569167607
rs1569167607
POLR2F ; SOX10
3 1.000 0.040 22 37973727 stop gained G/C snv 0.700 0