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: rs4911871
rs4911871
HTR2C ; MIR1911 ; LOC105373313
1 1.000 0.080 X 114762580 intron variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs56984562
rs56984562
LMNA
6 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs6314
rs6314
HTR2A
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs6318
rs6318
HTR2C ; LOC105373313
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs752513525
rs752513525
NDUFA13
3 0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs995922697
rs995922697
GPX1
15 0.724 0.560 3 49357413 missense variant A/G snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs1064794533
rs1064794533
GNAO1
4 0.882 0.080 16 56336846 missense variant G/A snv 0.700 0
dbSNP: rs146539065
rs146539065
SEPSECS
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs147484110
rs147484110
CSTB
11 0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
19 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
dbSNP: rs74315442
rs74315442
CSTB
10 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs864309483
rs864309483
ADCY5
9 0.851 0.080 3 123352464 missense variant G/A snv 0.700 0
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
14 0.851 0.240 21 44509225 frameshift variant GAC/AA delins 0.700 1.000 1 2016 2016
dbSNP: rs28363170
rs28363170
SLC6A3
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs776969714
rs776969714
SEPSECS
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs1563945076
rs1563945076
APTX
4 0.925 0.160 9 32974556 frameshift variant A/- del 0.700 0