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: rs1553632357
rs1553632357
5 0.882 0.120 3 41236421 stop gained G/T snv 0.700 0
dbSNP: rs1555706928
rs1555706928
8 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
dbSNP: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs28940298
rs28940298
VHL
9 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.010 1.000 1 2004 2004
dbSNP: rs5030821
rs5030821
VHL
8 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs755383
rs755383
7 0.807 0.120 9 863635 intron variant C/T snv 0.54 0.010 1.000 1 2010 2010