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: rs121912707
rs121912707
ALDH7A1
3 0.925 0.040 5 126552059 missense variant C/G snv 3.6E-04 2.4E-04 0.820 1.000 12 2006 2019
dbSNP: rs121912709
rs121912709
ALDH7A1
1 1.000 0.040 5 126577133 missense variant G/A snv 0.800 1.000 2 2006 2007
dbSNP: rs121912711
rs121912711
ALDH7A1
1 1.000 0.040 5 126561094 missense variant T/A;C snv 1.6E-05; 4.0E-06 0.800 1.000 2 2006 2007
dbSNP: rs201948406
rs201948406
ALDH7A1
1 1.000 0.040 5 126568296 synonymous variant C/A;G;T snv 1.6E-05; 4.0E-06; 5.6E-05 0.700 1.000 9 2007 2016
dbSNP: rs121912708
rs121912708
ALDH7A1
3 1.000 0.040 5 126583997 stop gained G/A;C snv 6.0E-05; 4.0E-06 0.700 1.000 4 2006 2015
dbSNP: rs556400964
rs556400964
ALDH7A1
1 1.000 0.040 5 126546376 missense variant C/G snv 8.8E-05 4.2E-05 0.700 1.000 3 2009 2013
dbSNP: rs779652673
rs779652673
ALDH7A1
1 1.000 0.040 5 126577140 missense variant G/A snv 1.6E-05 2.8E-05 0.700 1.000 3 2006 2014
dbSNP: rs140845195
rs140845195
ALDH7A1
3 1.000 0.040 5 126545020 splice acceptor variant C/A;T snv 1.6E-05; 4.0E-06 0.700 1.000 2 2007 2013
dbSNP: rs754449549
rs754449549
ALDH7A1
1 1.000 0.040 5 126559244 missense variant C/T snv 8.0E-06 2.1E-05 0.700 1.000 2 2006 2007
dbSNP: rs764588746
rs764588746
ALDH7A1
1 1.000 0.040 5 126593350 splice donor variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 2 2006 2010
dbSNP: rs779494572
rs779494572
ALDH7A1
1 1.000 0.040 5 126577212 splice acceptor variant C/G snv 4.0E-06 0.700 1.000 2 2006 2010
dbSNP: rs1060502949
rs1060502949
ALDH7A1
1 1.000 0.040 5 126592730 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1217642695
rs1217642695
ALDH7A1
1 1.000 0.040 5 126554286 splice donor variant C/A snv 7.0E-06 0.700 0
dbSNP: rs121912710
rs121912710
ALDH7A1
1 1.000 0.040 5 126552114 stop gained A/C;G snv 8.0E-06; 2.8E-05 0.700 0
dbSNP: rs1270423610
rs1270423610
ALDH7A1
1 1.000 0.040 5 126568334 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs1561672504
rs1561672504
ALDH7A1
1 1.000 0.040 5 126592662 splice donor variant A/T snv 0.700 0
dbSNP: rs372660425
rs372660425
ALDH7A1
1 1.000 0.040 5 126577145 missense variant T/C snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs387906574
rs387906574
ALDH7A1
1 1.000 0.040 5 126544988 frameshift variant C/- delins 0.700 0
dbSNP: rs750693623
rs750693623
ALDH7A1
2 1.000 0.040 5 126595165 frameshift variant C/- del 5.6E-04 0.700 0
dbSNP: rs764417585
rs764417585
ALDH7A1
1 1.000 0.040 5 126577199 missense variant G/T snv 8.0E-06 0.700 0
dbSNP: rs765119568
rs765119568
ALDH7A1
1 1.000 0.040 5 126577187 frameshift variant TCAATCAGTGC/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs767805540
rs767805540
ALDH7A1
1 1.000 0.040 5 126595152 frameshift variant -/TGGT delins 1.8E-05 7.0E-06 0.700 0
dbSNP: rs773814169
rs773814169
ALDH7A1
1 1.000 0.040 5 126595004 splice region variant T/A snv 4.5E-06 0.700 0
dbSNP: rs864622557
rs864622557
ALDH7A1
1 1.000 0.040 5 126554294 missense variant C/A snv 0.700 0
dbSNP: rs864622558
rs864622558
ALDH7A1
1 1.000 0.040 5 126559262 missense variant C/T snv 0.700 0