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: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
2 1.000 3 114350821 frameshift variant -/C delins 0.700 1.000 7 2009 2017
dbSNP: rs767350733
rs767350733
ALS2
7 0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 0.700 1.000 7 1992 2017
dbSNP: rs766413410
rs766413410
AGK
4 0.925 0.080 7 141615468 splice region variant C/A;G;T snv 1.2E-05; 2.8E-05; 2.8E-05 0.700 1.000 6 2012 2017
dbSNP: rs777096695
rs777096695
AGK
3 1.000 0.080 7 141611288 splice donor variant G/A;T snv 4.1E-06 0.700 1.000 6 2012 2017
dbSNP: rs797045865
rs797045865
PAFAH1B1
3 0.925 0.080 17 2674088 frameshift variant GA/- delins 0.700 1.000 6 1997 2017
dbSNP: rs142441643
rs142441643
SDHA
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 4 2010 2017
dbSNP: rs1553897738
rs1553897738
PHOX2B
1 4 41745807 stop lost T/C snv 0.700 1.000 4 2003 2017
dbSNP: rs762904815
rs762904815
BRPF1
3 1.000 3 9744394 frameshift variant C/-;CC;CCC delins 0.700 1.000 2 2017 2017
dbSNP: rs113001196
rs113001196
FBN1
5 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016
dbSNP: rs869025411
rs869025411
FBN1
4 0.925 0.160 15 48432911 missense variant A/G snv 0.700 1.000 29 1986 2016
dbSNP: rs1554777919
rs1554777919
STXBP1
2 9 127669950 frameshift variant G/- delins 0.700 1.000 27 1998 2016
dbSNP: rs1553156053
rs1553156053
SLC2A1
3 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1553479216
rs1553479216
SCN9A ; SCN1A-AS1
1 2 166228902 stop gained C/T snv 0.700 1.000 21 1995 2016
dbSNP: rs1314314373
rs1314314373
BCL11B
4 1.000 14 99176115 stop gained G/A;C snv 4.1E-06 0.700 1.000 19 2003 2016
dbSNP: rs61752992
rs61752992
MECP2
9 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 1.000 19 1993 2016
dbSNP: rs773724817
rs773724817
KCNH2
4 0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 0.700 1.000 14 1999 2016
dbSNP: rs1554708787
rs1554708787
PTCH1
3 1.000 9 95506567 stop gained C/T snv 0.700 1.000 13 1996 2016
dbSNP: rs781768965
rs781768965
PTCH1
3 1.000 9 95508175 stop gained C/A;G snv 4.0E-06 0.700 1.000 13 1996 2016
dbSNP: rs1556836399
rs1556836399
KDM5C ; MIR6895
2 1.000 X 53195978 stop gained G/A snv 0.700 1.000 12 2005 2016
dbSNP: rs587777308
rs587777308
GABRA1
14 0.763 0.040 5 161873196 missense variant G/A snv 0.700 1.000 11 1997 2016
dbSNP: rs1555625571
rs1555625571
TUBB3
2 16 89934974 missense variant G/C snv 0.700 1.000 10 2010 2016
dbSNP: rs1555565243
rs1555565243
RAI1
3 1.000 17 17794617 frameshift variant CT/- delins 0.700 1.000 9 2004 2016
dbSNP: rs730882175
rs730882175
KCNH1
3 1.000 0.120 1 210804143 missense variant C/T snv 0.700 1.000 8 1998 2016
dbSNP: rs778127154
rs778127154
ALDH5A1
4 1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 0.700 1.000 6 1994 2016
dbSNP: rs121918608
rs121918608
AHCY
3 1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05 0.700 1.000 5 2006 2016