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: rs786205232
rs786205232
KCNA2
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.700 1.000 28 1991 2017
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: rs1553153365
rs1553153365
HNRNPR
2 1 23310702 stop gained G/A snv 0.700 1.000 18 1998 2014
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: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 1.000 12 1997 2015
dbSNP: rs142209254
rs142209254
AP4B1 ; AP4B1-AS1
1 1 113896423 stop gained T/A;G snv 4.0E-06; 4.0E-06 0.700 1.000 10 2009 2016
dbSNP: rs149705131
rs149705131
AP4B1 ; AP4B1-AS1
1 1 113901236 missense variant C/T snv 1.6E-05 0.700 1.000 10 2009 2016
dbSNP: rs1553259463
rs1553259463
AP4B1
2 1.000 1 113901815 stop gained GACAT/- delins 0.700 1.000 10 2009 2016
dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
5 1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04 0.700 1.000 10 2009 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: rs1553255354
rs1553255354
ACTA1
2 1.000 1 229431843 missense variant C/G snv 0.700 1.000 9 2001 2015
dbSNP: rs1553255501
rs1553255501
ACTA1
1 1 229432792 missense variant A/C snv 0.700 1.000 9 2001 2015
dbSNP: rs1553238271
rs1553238271
CAMTA1
2 1.000 1 7661827 stop gained C/T snv 0.700 1.000 8 2006 2015
dbSNP: rs1553344875
rs1553344875
KCNH1
1 1 210797718 missense variant C/T snv 0.700 1.000 8 1998 2016
dbSNP: rs587776935
rs587776935
AKT3
7 0.827 0.120 1 243505296 missense variant G/A snv 0.700 1.000 8 1999 2017
dbSNP: rs730882175
rs730882175
KCNH1
3 1.000 0.120 1 210804143 missense variant C/T snv 0.700 1.000 8 1998 2016
dbSNP: rs121918243
rs121918243
MMACHC
5 0.882 0.160 1 45508848 missense variant G/A snv 1.7E-04 7.7E-05 0.700 1.000 7 2006 2015
dbSNP: rs1553292105
rs1553292105
TGFB2 ; TGFB2-AS1
1 1 218346929 frameshift variant TTGCTCCAGGAGAAGGC/- delins 0.700 1.000 7 2004 2015
dbSNP: rs1468358104
rs1468358104
FLVCR1 ; FLVCR1-DT
3 1 212858454 start lost T/C snv 3.7E-05 0.700 1.000 6 1997 2016
dbSNP: rs1553183771
rs1553183771
PARS2
1 1 54758297 stop gained G/A snv 0.700 1.000 6 2005 2017