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: rs104894166
rs104894166
3 0.882 0.120 10 93758280 missense variant T/C snv 0.810 1.000 10 2002 2009
dbSNP: rs104894167
rs104894167
1 1.000 0.120 10 93793207 missense variant T/C snv 0.800 1.000 10 2002 2009
dbSNP: rs28939075
rs28939075
1 1.000 0.120 10 93797082 missense variant T/G snv 0.800 1.000 10 2002 2009
dbSNP: rs1554907767
rs1554907767
1 1.000 0.120 10 93797285 stop gained -/AATAGTCAGAA delins 0.700 1.000 3 2002 2008
dbSNP: rs797044996
rs797044996
1 1.000 0.120 10 93758268 missense variant T/C;G snv 0.700 1.000 2 2004 2004
dbSNP: rs797044997
rs797044997
1 1.000 0.120 10 93793270 frameshift variant C/- del 0.700 1.000 2 2002 2003
dbSNP: rs797044998
rs797044998
1 1.000 0.120 10 93797549 stop gained C/T snv 0.700 1.000 2 2002 2004
dbSNP: rs1564851314
rs1564851314
1 1.000 0.120 10 93792742 splice acceptor variant G/T snv 0.700 1.000 1 2013 2013
dbSNP: rs797044999
rs797044999
2 0.925 0.120 10 93797547 missense variant C/T snv 0.700 1.000 1 2004 2004
dbSNP: rs869025201
rs869025201
1 1.000 0.120 10 93797142 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1060502053
rs1060502053
1 1.000 0.120 10 93797257 stop gained G/A snv 0.700 0
dbSNP: rs1060502054
rs1060502054
1 1.000 0.120 10 93793200 stop gained C/T snv 0.700 0
dbSNP: rs119488099
rs119488099
3 0.925 0.120 10 93777592 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs119488100
rs119488100
1 1.000 0.120 10 93777551 missense variant T/A snv 0.700 0
dbSNP: rs1554907787
rs1554907787
1 1.000 0.120 10 93797385 stop gained T/G snv 0.700 0
dbSNP: rs1564845068
rs1564845068
1 1.000 0.120 10 93777572 stop gained C/G snv 0.700 0
dbSNP: rs28937874
rs28937874
2 1.000 0.120 10 93797277 missense variant A/C snv 0.700 0