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: rs10498676
rs10498676
ELOVL2
3 0.925 0.040 6 11026766 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs1426217
rs1426217
GABRB3
1 1.000 0.040 15 26575978 intron variant A/G snv 0.46 0.010 < 0.001 1 2018 2018
dbSNP: rs2081648
rs2081648
GABRB3
1 1.000 0.040 15 26553052 intron variant T/C snv 0.12 0.010 < 0.001 1 2018 2018
dbSNP: rs4516035
rs4516035
VDR
10 0.776 0.360 12 47906043 non coding transcript exon variant T/C snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs61941020
rs61941020
CEP290
1 1.000 0.040 12 88079219 missense variant C/T snv 1.1E-02 6.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs7180500
rs7180500
GABRG3
1 1.000 0.040 15 27008032 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs850807
rs850807 		3 0.882 0.040 15 23652982 intergenic variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs7794745
rs7794745
CNTNAP2
6 0.851 0.040 7 146792514 intron variant A/T snv 0.49 0.040 0.750 4 2011 2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs849563
rs849563
NRP2
1 1.000 0.040 2 205745778 synonymous variant T/A;G snv 4.0E-06; 0.19 0.020 1.000 2 2007 2017
dbSNP: rs12456492
rs12456492
RIT2
3 0.882 0.080 18 43093415 intron variant A/G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs145115468
rs145115468
DUSP15
1 1.000 0.040 20 31862686 missense variant G/A snv 2.2E-04 1.2E-04 0.010 1.000 1 2017 2017
dbSNP: rs16976358
rs16976358
LINC00907
6 0.827 0.080 18 42611606 intron variant T/C snv 1.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs2194079
rs2194079
MEGF10 ; LOC105379199
1 1.000 0.040 5 127292406 intron variant A/G snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs2268498
rs2268498
CAV3 ; OXTR
7 0.827 0.080 3 8770725 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs3746599
rs3746599
DUSP15
1 1.000 0.040 20 31849719 intron variant A/G snv 0.44 0.55 0.010 1.000 1 2017 2017
dbSNP: rs4836316
rs4836316
MEGF10 ; LOC105379199
1 1.000 0.040 5 127292183 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs4836317
rs4836317
MEGF10
1 1.000 0.040 5 127293079 intron variant G/T snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs587777162
rs587777162
EEF1A2
5 0.925 0.040 20 63495972 missense variant C/T snv 0.010 1.000 1 2017 2017
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 2017 2017
dbSNP: rs748128078
rs748128078
GRIN2B
2 0.925 0.040 12 13562968 missense variant G/A snv 1.6E-05 5.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs756790727
rs756790727
GRIN2B
2 0.925 0.040 12 13562883 missense variant G/A snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs879254129
rs879254129
GRIN2B
2 0.925 0.040 12 13562977 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1566446604
rs1566446604
CHD8
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016