Source: ALL
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: rs1553410995
rs1553410995
LRPPRC
1 1.000 0.120 2 43974214 stop gained G/C snv 0.700 0
dbSNP: rs1553411748
rs1553411748
LRPPRC
1 1.000 0.120 2 43977043 stop gained G/A snv 0.700 0
dbSNP: rs1553411751
rs1553411751
LRPPRC
1 1.000 0.120 2 43977044 stop gained G/T snv 0.700 0
dbSNP: rs1553413047
rs1553413047
LRPPRC
1 1.000 0.120 2 43982330 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs1553416989
rs1553416989
LRPPRC
1 1.000 0.120 2 43995945 start lost C/T snv 0.700 0
dbSNP: rs750343121
rs750343121
LRPPRC
1 1.000 0.120 2 43949614 frameshift variant AG/- delins 4.9E-05 0.700 0
dbSNP: rs752914914
rs752914914
LRPPRC
1 1.000 0.120 2 43948174 frameshift variant GATA/- delins 0.700 0
dbSNP: rs769022521
rs769022521
LRPPRC
1 1.000 0.120 2 43918026 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs774934005
rs774934005
LRPPRC
1 1.000 0.120 2 43949614 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs775735922
rs775735922
LRPPRC
1 1.000 0.120 2 43957445 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs797044605
rs797044605
LRPPRC
1 1.000 0.120 2 43905770 frameshift variant G/- delins 7.0E-06 0.700 0
dbSNP: rs863225443
rs863225443
LRPPRC
1 1.000 0.120 2 43896633 splice donor variant C/A;G snv 4.0E-06 0.700 0
dbSNP: rs863225444
rs863225444
LRPPRC
1 1.000 0.120 2 43934786 inframe deletion CCA/- delins 0.700 0
dbSNP: rs863225445
rs863225445
LRPPRC
1 1.000 0.120 2 43934198 inframe deletion CTT/- delins 0.700 0
dbSNP: rs896524026
rs896524026
LRPPRC
1 1.000 0.120 2 43960546 stop gained G/A;T snv 0.700 0
dbSNP: rs989113962
rs989113962
LRPPRC
1 1.000 0.120 2 43977157 stop gained G/A snv 0.700 0
dbSNP: rs119466000
rs119466000
LRPPRC
1 1.000 0.120 2 43974244 missense variant G/A snv 5.6E-05 7.0E-06 0.810 1.000 4 2003 2011
dbSNP: rs200550102
rs200550102
PTGS1
1 1.000 0.120 9 122392240 missense variant C/T snv 1.9E-04 2.1E-05 0.010 1.000 1 2004 2004
dbSNP: rs1558936154
rs1558936154
LRPPRC
1 1.000 0.120 2 43918043 stop gained G/A snv 0.700 1.000 1 2019 2019