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: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 1.000 2 2009 2016
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2009 2016
dbSNP: rs1053972
rs1053972
KLK3
1 1.000 0.040 19 50855373 3 prime UTR variant C/T snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs1169089134
rs1169089134
FOLH1
9 0.790 0.320 11 49206785 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1882260
rs1882260
NLGN4X
2 1.000 0.040 X 5890820 3 prime UTR variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs237889
rs237889
CAV3 ; OXTR
2 0.925 0.040 3 8760797 intron variant T/C snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs3810686
rs3810686
NLGN4X
1 1.000 0.040 X 5892533 3 prime UTR variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3810687
rs3810687
NLGN4X
1 1.000 0.040 X 5892643 3 prime UTR variant G/T snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs3810688
rs3810688
NLGN4X
1 1.000 0.040 X 5892715 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs5916269
rs5916269
NLGN4X
1 1.000 0.040 X 5892258 3 prime UTR variant G/A snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs6311
rs6311
HTR2A
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 < 0.001 1 2016 2016
dbSNP: rs6464926
rs6464926
EZH2
4 0.882 0.120 7 148821919 intron variant C/T snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs6638575
rs6638575
NLGN4X
1 1.000 0.040 X 5894600 intron variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs740949
rs740949
EZH2
1 1.000 0.040 7 148808972 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs779867
rs779867
GRM7
9 0.776 0.120 3 7442784 intron variant T/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1006737
rs1006737
CACNA1C
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs1051312
rs1051312
SNAP25 ; SNAP25-AS1
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs111902263
rs111902263
RNF135
1 1.000 0.040 17 30971417 missense variant G/A snv 1.2E-02 1.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs118163237
rs118163237
UPB1
2 0.925 0.160 22 24523679 missense variant G/A snv 1.9E-03 7.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs121909323
rs121909323
CACNA1A
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs12609735
rs12609735
CACNA1A
1 1.000 0.040 19 13477702 intron variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1475617034
rs1475617034
RIMS1
1 1.000 0.040 6 72182348 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs167771
rs167771
DRD3
5 0.827 0.280 3 114157428 intron variant G/A;T snv 0.010 1.000 1 2015 2015