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: rs363043
rs363043
SNAP25 ; SNAP25-AS1
3 0.925 0.080 20 10245498 intron variant C/T snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs3746544
rs3746544
SNAP25 ; SNAP25-AS1
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.010 1.000 1 2017 2017
dbSNP: rs1057519866
rs1057519866
NT5C2
5 0.851 0.120 10 103093198 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1331851285
rs1331851285
CASP1
2 1.000 0.080 11 105029220 missense variant T/C snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs566794487
rs566794487
CRY1
1 12 106997986 missense variant A/C snv 3.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs104895321
rs104895321
MVK
4 0.882 0.240 12 109591301 missense variant C/G;T snv 1.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs104895358
rs104895358
MVK
2 12 109595148 missense variant G/A snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs28934897
rs28934897
MVK
10 0.790 0.400 12 109596515 missense variant G/A snv 1.6E-03 1.5E-03 0.010 1.000 1 2016 2016
dbSNP: rs9990174
rs9990174
SLC6A1
2 1.000 0.040 3 10998753 intron variant G/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs2944366
rs2944366
SLC6A1 ; SLC6A1-AS1
2 1.000 0.040 3 11011556 intron variant T/C snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1170695
rs1170695
SLC6A1 ; SLC6A1-AS1
2 1.000 0.040 3 11013652 5 prime UTR variant A/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs80356726
rs80356726
TARDBP
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1800544
rs1800544
ADRA2A
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.010 1.000 1 2010 2010
dbSNP: rs1800035
rs1800035
ADRA2A
4 0.925 0.080 10 111078794 missense variant C/G;T snv 1.9E-03 0.010 < 0.001 1 2006 2006
dbSNP: rs33980500
rs33980500
TRAF3IP2 ; TRAF3IP2-AS1
14 0.742 0.200 6 111592059 missense variant C/T snv 8.6E-02 9.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs397507548
rs397507548
PTPN11
6 0.851 0.160 12 112489093 missense variant A/C snv 0.010 1.000 1 2003 2003
dbSNP: rs397509345
rs397509345
PTPN11
5 0.851 0.160 12 112489093 missense variant AG/CC mnv 0.010 1.000 1 2003 2003
dbSNP: rs2303380
rs2303380
TTC12
2 1.000 0.040 11 113329987 splice region variant G/A snv 0.61 0.64 0.010 1.000 1 2017 2017
dbSNP: rs6278
rs6278
DRD2
2 1.000 0.080 11 113410002 3 prime UTR variant C/A snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs2283265
rs2283265
DRD2
12 0.776 0.160 11 113414814 intron variant C/A snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs1799732
rs1799732
DRD2 ; LOC105369501
11 0.790 0.160 11 113475529 intron variant -/G delins 0.010 1.000 1 2014 2014
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2015 2015
dbSNP: rs2161961
rs2161961
GNAL
3 18 11774501 intron variant A/G snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007