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: rs4699052
rs4699052 		3 0.925 0.200 4 103216633 intergenic variant C/T snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs7010162
rs7010162
PRDM14
2 1.000 0.120 8 70064270 intron variant C/T snv 0.52 0.700 1.000 1 2013 2013
dbSNP: rs7040024
rs7040024
DMRT1
4 0.925 0.120 9 845516 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs7532231
rs7532231 		2 1.000 0.120 1 104193445 intron variant A/G;T snv 0.39 0.700 1.000 1 2019 2019
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