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: rs1553749681
rs1553749681
4 0.925 3 51064514 stop gained C/T snv 0.700 1.000 23 2000 2018
dbSNP: rs1555605688
rs1555605688
2 17 59668852 missense variant C/T snv 0.700 1.000 23 1976 2017
dbSNP: rs1064796453
rs1064796453
2 3 41235799 stop gained C/A;T snv 0.700 1.000 22 1991 2017
dbSNP: rs1553631783
rs1553631783
2 3 41233416 frameshift variant G/- delins 0.700 1.000 22 1991 2017
dbSNP: rs1553732126
rs1553732126
2 3 123347875 frameshift variant -/G delins 0.700 1.000 22 1992 2017
dbSNP: rs1555046615
rs1555046615
3 1.000 11 118503389 frameshift variant A/- del 0.700 1.000 22 1989 2017
dbSNP: rs1555047506
rs1555047506
2 11 118505003 frameshift variant GTTT/- delins 0.700 1.000 22 1989 2017
dbSNP: rs1555764170
rs1555764170
1 18 55254579 frameshift variant CC/- del 0.700 1.000 22 2007 2017
dbSNP: rs775104326
rs775104326
10 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 1.000 22 1991 2017
dbSNP: rs782297546
rs782297546
5 0.925 0.240 11 118473471 frameshift variant C/-;CC delins 0.700 1.000 22 1989 2017
dbSNP: rs864309483
rs864309483
9 0.851 0.080 3 123352464 missense variant G/A snv 0.700 1.000 22 1992 2017
dbSNP: rs1057521083
rs1057521083
4 0.925 0.200 2 199348709 missense variant G/A snv 0.700 1.000 21 1989 2017
dbSNP: rs1413339367
rs1413339367
1 1 42930661 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1553156053
rs1553156053
3 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1553317028
rs1553317028
2 1.000 2 32128440 inframe deletion CTT/- delins 0.700 1.000 21 1999 2016
dbSNP: rs1554086554
rs1554086554
1 5 114404815 inframe deletion TAT/- delins 0.700 1.000 21 1999 2016
dbSNP: rs1555254256
rs1555254256
3 1.000 13 23354906 stop gained C/T snv 0.700 1.000 21 1993 2016
dbSNP: rs1557082399
rs1557082399
4 1.000 X 77593803 stop gained C/T snv 0.700 1.000 21 1992 2017
dbSNP: rs797044850
rs797044850
3 1.000 0.080 2 32127017 missense variant A/G snv 0.700 1.000 21 1999 2016
dbSNP: rs878854991
rs878854991
5 0.882 0.080 2 32141906 missense variant G/A snv 0.700 1.000 21 1999 2016
dbSNP: rs1554236054
rs1554236054
3 1.000 6 157201481 frameshift variant -/G delins 0.700 1.000 20 1984 2017
dbSNP: rs1554599036
rs1554599036
4 1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 0.700 1.000 20 1999 2016
dbSNP: rs1555050165
rs1555050165
3 0.925 0.200 11 105926814 missense variant A/G snv 0.700 1.000 20 1992 2016
dbSNP: rs587777429
rs587777429
3 1.000 0.120 19 6496032 missense variant C/A;T snv 0.700 1.000 20 2002 2017
dbSNP: rs74315402
rs74315402
7 0.882 0.200 20 4699570 missense variant C/T snv 0.700 1.000 20 1993 2018