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: rs1400419650
rs1400419650
38 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1555386022
rs1555386022
38 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
dbSNP: rs66527965
rs66527965
31 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
dbSNP: rs749621890
rs749621890
7 0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs759244819
rs759244819
3 0.882 0.120 22 49904498 frameshift variant T/- delins 2.8E-05 0.700 0
dbSNP: rs761221480
rs761221480
3 0.882 0.120 22 49913649 frameshift variant C/- del 1.6E-05 7.0E-06 0.700 0