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: rs751670999
rs751670999
1 1.000 16 68352314 missense variant T/C snv 8.0E-06 7.0E-06 0.800 1.000 1 2015 2015
dbSNP: rs762515973
rs762515973
1 1.000 16 68346248 missense variant A/G snv 4.8E-05 7.0E-06 0.800 1.000 1 2015 2015
dbSNP: rs149170494
rs149170494
1 1.000 16 68316074 missense variant G/C snv 1.2E-05 2.1E-05 0.800 0
dbSNP: rs1014959895
rs1014959895
16 0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1567690011
rs1567690011
9 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
dbSNP: rs1567721991
rs1567721991
9 0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 0.700 0
dbSNP: rs201824659
rs201824659
1 1.000 16 68346144 splice acceptor variant G/T snv 6.8E-05 7.7E-05 0.700 0
dbSNP: rs886039897
rs886039897
1 1.000 16 68347630 splice acceptor variant G/A snv 4.0E-06 0.700 0