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: rs2251214
rs2251214
SYT1
7 0.827 0.040 12 79430071 intron variant A/G;T snv 0.020 1.000 2 2019 2019
dbSNP: rs1048101
rs1048101
ADRA1A
5 0.882 0.120 8 26770511 missense variant A/G snv 0.52 0.56 0.010 1.000 1 2013 2013
dbSNP: rs1386497
rs1386497
TPH2
1 1.000 12 71998510 intron variant C/A snv 0.83 0.010 1.000 1 2015 2015
dbSNP: rs1803274
rs1803274
BCHE
13 0.763 0.360 3 165773492 missense variant C/T snv 0.18 0.18 0.010 1.000 1 2013 2013
dbSNP: rs199472730
rs199472730
KCNQ1
5 0.882 0.120 11 2572895 missense variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2609997
rs2609997
PENK ; LOC101929415
3 0.882 0.120 8 56447926 intron variant T/C snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs324420
rs324420
FAAH
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2018 2018
dbSNP: rs3776823
rs3776823
CAMK2A
1 1.000 5 150258042 intron variant G/A;C;T snv 0.010 1.000 1 2014 2014