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: rs143141689
rs143141689
ORC1
3 0.882 0.280 1 52397773 missense variant C/T snv 9.5E-05 1.6E-04 0.710 1.000 5 2011 2015
dbSNP: rs387906917
rs387906917
CDT1
2 0.925 0.200 16 88807390 missense variant G/A snv 5.6E-05 5.6E-05 0.700 1.000 3 2011 2012
dbSNP: rs864309486
rs864309486
GMNN
21 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487
GMNN
20 0.763 0.280 6 24777279 frameshift variant TCAA/- delins 0.700 1.000 1 2015 2015
dbSNP: rs864309488
rs864309488
GMNN
14 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1437544261
rs1437544261
DONSON
2 0.925 0.280 21 33581303 missense variant T/C snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1445081098
rs1445081098
COMT ; MIR4761
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs167771
rs167771
DRD3
5 0.827 0.280 3 114157428 intron variant G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs374279734
rs374279734
ASPH
2 0.925 0.280 8 61653585 missense variant T/C snv 8.0E-06 4.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 < 0.001 1 2013 2013
dbSNP: rs6277
rs6277
DRD2
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2006 2006
dbSNP: rs774052186
rs774052186
DONSON
2 0.925 0.280 21 33584744 missense variant G/A snv 0.010 1.000 1 2019 2019