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: rs137852959
rs137852959
PANK2 ; MIR103B2
9 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.700 0
dbSNP: rs145522851
rs145522851
SPTBN2
4 0.925 0.080 11 66685935 missense variant C/T snv 1.0E-04 1.2E-04 0.700 0
dbSNP: rs953038635
rs953038635
SOD2
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 1.000 2 2007 2008
dbSNP: rs1231813088
rs1231813088
HHEX
4 0.851 0.160 10 92690015 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1322425552
rs1322425552
OTOP2 ; USH1G
4 0.851 0.160 17 74923048 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs3755557
rs3755557
GSK3B ; LOC107986119
6 0.807 0.280 3 120096110 non coding transcript exon variant T/A snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs6280
rs6280
DRD3
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2002 2002
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2001 2001
dbSNP: rs6779828
rs6779828
GSK3B
2 0.925 0.120 3 120056300 intron variant C/T snv 0.28 0.010 1.000 1 2010 2010
dbSNP: rs945232586
rs945232586
CYP4F3
1 1.000 0.080 19 15641443 missense variant G/A snv 0.010 1.000 1 2002 2002