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: rs137854889
rs137854889
31 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs144078282
rs144078282
9 0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04 0.700 0
dbSNP: rs1554700718
rs1554700718
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs181109321
rs181109321
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs200203460
rs200203460
9 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
dbSNP: rs104894578
rs104894578
6 0.807 0.280 17 70175691 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1232197674
rs1232197674
5 0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2019 2019