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: rs797044916
rs797044916
CDC42
1 1.000 1 22078546 missense variant A/G snv 0.700 1.000 30 1993 2015
dbSNP: rs1553270522
rs1553270522
ZBTB18
3 1.000 1 244054804 frameshift variant GATGA/- delins 0.700 1.000 26 1997 2017
dbSNP: rs797044885
rs797044885
ZBTB18
4 0.925 1 244055156 missense variant A/G snv 0.700 1.000 26 1997 2017
dbSNP: rs1553156053
rs1553156053
SLC2A1
3 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1553259529
rs1553259529
MPZ
3 1.000 1 161306152 frameshift variant -/C delins 0.700 1.000 14 1998 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: rs1553212545
rs1553212545
POGZ
3 1.000 1 151406046 stop gained G/A snv 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: rs1553283037
rs1553283037
HNRNPU
2 1.000 1 244860382 missense variant T/C snv 0.700 1.000 13 2010 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: rs864321674
rs864321674
POGZ
2 0.925 0.160 1 151406100 stop gained G/A snv 0.700 1.000 13 1999 2017
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 1.000 12 1997 2015
dbSNP: rs1553182933
rs1553182933
NFIA
2 1.000 1 61404103 splice acceptor variant G/A snv 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: rs1303653650
rs1303653650
ATP13A2
1 1.000 1 16996059 stop gained G/A snv 1.4E-05 0.700 1.000 10 2006 2014
dbSNP: rs1553227742
rs1553227742
ASPM
2 1.000 1 197142866 stop gained G/C snv 0.700 1.000 10 2002 2016
dbSNP: rs1553259463
rs1553259463
AP4B1
2 1.000 1 113901815 stop gained GACAT/- delins 0.700 1.000 10 2009 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: rs765530357
rs765530357
ASPM
2 1.000 1 197101666 stop gained GATAT/- delins 4.0E-06 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: rs1553255354
rs1553255354
ACTA1
2 1.000 1 229431843 missense variant C/G snv 0.700 1.000 9 2001 2015