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: rs1553920379
rs1553920379
PPP3CA
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1567815105
rs1567815105
ADGRG1
7 0.807 0.240 16 57660794 frameshift variant -/T delins 0.700 0
dbSNP: rs200956636
rs200956636
RAB27A
5 0.925 0.280 15 55205623 stop gained G/A snv 6.8E-05 6.3E-05 0.700 0
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
15 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
12 0.790 0.240 X 100407507 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs121909673
rs121909673
GABRG2
10 0.776 0.080 5 162093965 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs2273697
rs2273697
ABCC2
11 0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 0.010 1.000 1 2014 2014
dbSNP: rs373363000
rs373363000
GABRA6
3 0.882 0.080 5 161686327 missense variant C/A;T snv 4.0E-06; 3.3E-04 0.010 1.000 1 2011 2011
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 1.000 1 2008 2008
dbSNP: rs60844753
rs60844753
SLC16A1 ; SLC16A1-AS1
2 0.925 0.160 1 112956453 non coding transcript exon variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs63750634
rs63750634
PSEN1
3 0.925 0.120 14 73192843 missense variant T/G snv 0.010 1.000 1 2003 2003