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: rs1508595
rs1508595 		5 0.851 0.240 12 88592239 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs388286
rs388286 		1 1.000 0.120 20 56890368 regulatory region variant C/T snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs945095657
rs945095657
GALNT3
1 1.000 0.120 2 165757052 stop gained T/A snv 0.010 1.000 1 2006 2006
dbSNP: rs995030
rs995030
KITLG
9 0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 0.010 1.000 1 2019 2019