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: rs1050501
rs1050501
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.700 0
dbSNP: rs1053874
rs1053874
7 0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06 0.700 0
dbSNP: rs121912990
rs121912990
1 16 3655386 stop gained A/T snv 0.700 0
dbSNP: rs3219018
rs3219018
2 1.000 0.080 1 161662856 upstream gene variant G/C snv 0.700 0
dbSNP: rs72556554
rs72556554
9 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.700 0