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: rs1060505041
rs1060505041
NACC1
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs1555955296
rs1555955296
CDKL5
17 0.742 0.320 X 18628716 stop gained C/T snv 0.700 0
dbSNP: rs1555968941
rs1555968941
CACNA1C
31 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
12 0.851 0.120 14 77026534 missense variant A/G snv 0.700 0
dbSNP: rs1569508922
rs1569508922
ALG13
5 0.882 0.160 X 111681268 missense variant T/A snv 0.700 0
dbSNP: rs201278558
rs201278558
SLC1A4 ; LINC02245 ; LOC107984063
3 0.925 0.080 2 65010729 missense variant G/A snv 2.3E-04 1.2E-04 0.700 0
dbSNP: rs35135520
rs35135520
TIMM50
12 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
dbSNP: rs45514095
rs45514095
TSC2
2 0.925 0.160 16 2085323 splice donor variant G/A snv 0.700 0
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
dbSNP: rs749203329
rs749203329
MLLT1
7 0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
13 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs776019250
rs776019250
TIMM50
12 0.827 0.200 19 39482885 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs782304760
rs782304760
KDM2B
4 0.925 0.080 12 121442391 missense variant C/T snv 2.8E-05 7.0E-06 0.700 0
dbSNP: rs794727792
rs794727792
STXBP1
8 0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs869312661
rs869312661
WDR45 ; PRAF2
3 0.925 0.160 X 49075135 splice donor variant C/T snv 0.700 0
dbSNP: rs876660634
rs876660634
PTEN
10 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
dbSNP: rs11872992
rs11872992
MC4R
4 0.851 0.160 18 60373354 intron variant G/A snv 0.12 0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs10482672
rs10482672
NR3C1
2 0.925 0.080 5 143312968 intron variant G/A snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs267608472
rs267608472
CDKL5
3 0.882 0.160 X 18579965 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs267608493
rs267608493
CDKL5
5 0.827 0.200 X 18584331 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2963155
rs2963155
NR3C1
3 0.882 0.160 5 143376439 intron variant A/G snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs4912905
rs4912905
NR3C1
3 0.925 0.080 5 143350811 intron variant G/C snv 0.20 0.010 1.000 1 2012 2012