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: rs202151337
rs202151337
SCN8A
4 0.925 0.160 12 51806788 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs202247812
rs202247812
KRAS
2 1.000 0.160 12 25225717 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs206936
rs206936
NUDT3 ; RPS10-NUDT3
8 0.882 0.160 6 34335092 intron variant A/G snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs2110267
rs2110267
DPP6
3 1.000 0.040 7 153838604 intergenic variant C/G snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs2161961
rs2161961
GNAL
3 18 11774501 intron variant A/G snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs2281997
rs2281997
ENHO
5 0.882 0.240 9 34521869 intron variant T/A;C snv 0.010 1.000 1 2018 2018
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: rs2284411
rs2284411
GRIN2B
4 1.000 0.040 12 13713238 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs27072
rs27072
SLC6A3
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2008 2008
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 2014 2014
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: 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: rs3836790
rs3836790
SLC6A3
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2007 2007
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: rs402691
rs402691
PRKCG
2 19 53888383 intron variant T/C snv 0.39 0.010 1.000 1 2007 2007
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs6191
rs6191
NR3C1
4 0.925 0.040 5 143278591 3 prime UTR variant C/A snv 0.48 0.010 1.000 1 2019 2019
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: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.010 1.000 1 2017 2017
dbSNP: rs63750416
rs63750416
MAPT
7 0.851 0.120 17 46010373 missense variant A/C snv 0.010 1.000 1 2017 2017
dbSNP: rs773857
rs773857
CPAMD8
1 19 16908042 intron variant C/T snv 0.56 0.010 1.000 1 2012 2012