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: rs1043679457
rs1043679457
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1057518886
rs1057518886
5 11 119090043 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518956
rs1057518956
3 0.925 0.080 10 31520308 stop gained C/T snv 0.700 0
dbSNP: rs1555741826
rs1555741826
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs397515508
rs397515508
ND1 ; ND2
4 0.925 0.160 MT 3700 missense variant G/A snv 0.700 0
dbSNP: rs61750654
rs61750654
5 0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 0.700 0