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: rs147642358
rs147642358
ARPC1A
1 1.000 0.040 7 99335136 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs188845491
rs188845491
CYP3A7 ; CYP3A51P ; ZSCAN25 ; CYP3A7-CYP3A51P
1 1.000 0.040 7 99689016 intron variant C/T snv 2.5E-04 0.700 1.000 1 2015 2015
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2015 2015
dbSNP: rs61361928
rs61361928
UGT2B7
1 1.000 0.040 4 69096657 missense variant T/C snv 2.6E-03 2.8E-03 0.700 1.000 1 2015 2015
dbSNP: rs62471956
rs62471956 		1 1.000 0.040 7 99823462 upstream gene variant G/A snv 3.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs8048002
rs8048002
CIITA ; LOC112267907
4 0.851 0.320 16 10898131 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs10811656
rs10811656
CDKN2B-AS1
7 0.807 0.200 9 22124473 intron variant C/T snv 0.47 0.020 1.000 2 2013 2016
dbSNP: rs12696304
rs12696304 		10 0.776 0.320 3 169763483 downstream gene variant C/G snv 0.38 0.010 < 0.001 1 2016 2016
dbSNP: rs2235312
rs2235312
APLN
3 0.882 0.160 X 129653118 intron variant A/G snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs3761581
rs3761581
APLN
5 0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs3784929
rs3784929
KARS1
2 0.925 0.160 16 75643129 intron variant A/G snv 0.30 0.010 < 0.001 1 2016 2016
dbSNP: rs622064
rs622064
DNAJB13
3 0.882 0.240 11 73961529 intron variant C/A snv 0.30 0.010 < 0.001 1 2016 2016
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2016 2016
dbSNP: rs659366
rs659366
UCP2
17 0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40 0.010 < 0.001 1 2016 2016
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs8053257
rs8053257
KARS1
2 0.925 0.120 16 75640790 intron variant G/A snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2005 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2013 2017
dbSNP: rs1967309
rs1967309
ADCY9
3 0.925 0.080 16 4015582 non coding transcript exon variant A/G snv 0.51 0.710 1.000 2 2015 2017
dbSNP: rs8259
rs8259
BSG
9 0.776 0.200 19 582927 3 prime UTR variant T/A snv 0.39 0.020 1.000 2 2015 2017
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs11057830
rs11057830
SCARB1
5 0.851 0.040 12 124822507 intron variant G/A snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs1129293
rs1129293
PIK3CG
3 0.882 0.040 7 106872566 synonymous variant C/T snv 0.32 0.26 0.010 1.000 1 2017 2017
dbSNP: rs11638352
rs11638352
FRMD5
2 0.925 0.040 15 44000939 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs117714106
rs117714106 		3 0.882 0.080 14 84338144 intergenic variant C/T snv 9.1E-03 0.700 1.000 1 2017 2017