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: rs797044870
rs797044870
CDC42
3 0.925 1 22086456 missense variant A/G snv 0.700 1.000 30 1993 2015
dbSNP: rs797044885
rs797044885
ZBTB18
4 0.925 1 244055156 missense variant A/G snv 0.700 1.000 26 1997 2017
dbSNP: rs1553153365
rs1553153365
HNRNPR
2 1 23310702 stop gained G/A snv 0.700 1.000 18 1998 2014
dbSNP: rs1553268563
rs1553268563
USH2A
2 1 215845823 coding sequence variant C/- delins 0.700 1.000 15 2000 2015
dbSNP: rs80338903
rs80338903
USH2A
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 15 2000 2015
dbSNP: rs1313319892
rs1313319892
POGZ
3 1.000 1 151406306 stop gained G/A;T snv 7.0E-06 0.700 1.000 13 1999 2017
dbSNP: rs1553212626
rs1553212626
POGZ
3 1.000 1 151406151 frameshift variant -/A delins 0.700 1.000 13 1999 2017
dbSNP: rs1553212978
rs1553212978
POGZ
3 1.000 1 151406322 frameshift variant -/T delins 0.700 1.000 13 1999 2017
dbSNP: rs768849266
rs768849266
NMNAT2
2 1.000 1 183261260 missense variant C/T snv 1.2E-05 0.700 1.000 13 2002 2016
dbSNP: rs775499191
rs775499191
NMNAT2
2 1.000 1 183286706 frameshift variant -/G delins 4.0E-06; 4.0E-06 0.700 1.000 13 2002 2016
dbSNP: rs1553182933
rs1553182933
NFIA
2 1.000 1 61404103 splice acceptor variant G/A snv 0.700 1.000 12 1999 2015
dbSNP: rs1553182964
rs1553182964
NFIA
2 1 61404170 frameshift variant ACTT/- delins 0.700 1.000 12 1999 2015
dbSNP: rs1189399471
rs1189399471
ASPM
2 1.000 1 197103099 frameshift variant T/- del 0.700 1.000 10 2002 2016
dbSNP: rs1553227742
rs1553227742
ASPM
2 1.000 1 197142866 stop gained G/C snv 0.700 1.000 10 2002 2016
dbSNP: rs1553326645
rs1553326645
ASPM
2 1.000 1 197094181 splice acceptor variant C/G snv 0.700 1.000 10 2002 2016
dbSNP: rs587783211
rs587783211
ASPM
3 0.925 0.120 1 197086966 stop gained G/A snv 2.0E-05 3.5E-05 0.700 1.000 10 2002 2016
dbSNP: rs869025195
rs869025195
RIT1
11 0.790 0.280 1 155904493 missense variant T/G snv 0.700 1.000 10 2010 2016
dbSNP: rs1283368278
rs1283368278
TBCE
2 1.000 1 235401503 missense variant G/C snv 7.0E-06 0.700 1.000 6 1991 2016
dbSNP: rs1553234339
rs1553234339
COL11A1
2 1.000 1 103012412 splice donor variant C/T snv 0.700 1.000 6 1998 2014
dbSNP: rs1553275644
rs1553275644
RAB3GAP2
1 1 220182355 splice acceptor variant C/T snv 0.700 1.000 6 2006 2014
dbSNP: rs387907186
rs387907186
SF3B4
3 0.925 0.120 1 149923670 frameshift variant G/-;GG delins 0.700 1.000 6 2007 2016
dbSNP: rs398122828
rs398122828
COL11A1
2 1.000 0.240 1 102915630 splice donor variant C/T snv 0.700 1.000 6 1998 2014
dbSNP: rs746593718
rs746593718
TBCE ; B3GALNT2
2 1.000 1 235448437 stop gained -/AGTAA delins 2.0E-05 6.3E-05 0.700 1.000 6 1991 2016
dbSNP: rs387907306
rs387907306
SKI
4 0.925 0.160 1 2228866 missense variant G/A;T snv 0.700 1.000 5 2005 2016
dbSNP: rs1247427997
rs1247427997
TMCO1
4 1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 4 2010 2014