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: rs13000344
rs13000344 		2 0.925 0.040 2 63062599 downstream gene variant T/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs4446909
rs4446909
ASMT
2 0.925 0.040 Y 1614890 upstream gene variant G/A snv 0.020 1.000 2 2008 2013
dbSNP: rs5989681
rs5989681
ASMT
1 1.000 0.040 Y 1614999 upstream gene variant G/A;C snv 0.020 1.000 2 2008 2013
dbSNP: rs6311
rs6311
HTR2A
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.020 1.000 2 2014 2014
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs12826786
rs12826786 		26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.010 1.000 1 2020 2020
dbSNP: rs2317385
rs2317385
ITGB3
1 1.000 0.040 17 47252316 upstream gene variant G/A snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs25531
rs25531
SLC6A4 ; LOC105371720
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs344781
rs344781
PLAUR
7 0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80 0.010 1.000 1 2008 2008
dbSNP: rs55827077
rs55827077
ITGB3
1 1.000 0.040 17 47253717 upstream gene variant G/C snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs6994992
rs6994992
NRG1
13 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs7294536
rs7294536
AVPR1A
2 0.925 0.040 12 63154312 upstream gene variant T/C snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs12539160
rs12539160
MLXIPL
1 1.000 0.040 7 73606109 splice region variant C/A;T snv 2.8E-02 3.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs1396313317
rs1396313317
CNTNAP2 ; LOC107986721
1 1.000 0.040 7 147562137 splice acceptor variant G/A;C snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1561824498
rs1561824498
MEF2C
1 1.000 0.040 5 88752044 splice acceptor variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1085308043
rs1085308043
PTEN
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs762292772
rs762292772
SHANK3
4 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 1.000 2 2015 2019
dbSNP: rs1555910143
rs1555910143
SHANK3
2 0.925 0.120 22 50721257 frameshift variant CT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1565527302
rs1565527302
SHANK2
1 1.000 0.040 11 70485988 frameshift variant TG/- del 0.700 1.000 1 2019 2019
dbSNP: rs1567533189
rs1567533189
TSC2
2 0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 0.700 1.000 1 2019 2019
dbSNP: rs1569305431
rs1569305431
IQSEC2
1 1.000 0.040 X 53254702 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs724159978
rs724159978
RNF135
1 1.000 0.040 17 30998906 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs762735676
rs762735676
NF1
1 1.000 0.040 17 31221945 frameshift variant TTT/-;TTTT delins 6.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs1565532385
rs1565532385
UBE4A
3 0.925 0.080 11 118374964 frameshift variant CA/- del 0.700 0