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: rs1010184002
rs1010184002
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1126809
rs1126809
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 0
dbSNP: rs1555257073
rs1555257073
25 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
dbSNP: rs201518227
rs201518227
13 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 0.700 0
dbSNP: rs267607093
rs267607093
14 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs28940881
rs28940881
16 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
dbSNP: rs61753219
rs61753219
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs61753253
rs61753253
7 0.925 0.160 11 89178278 missense variant G/A snv 5.2E-05 8.4E-05 0.700 0
dbSNP: rs886041065
rs886041065
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0