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: rs1023159
rs1023159
SLC19A1
1 1.000 0.040 21 45546266 intron variant G/A snv 0.34 0.020 1.000 2 2016 2017
dbSNP: rs237897
rs237897
CAV3 ; OXTR
1 1.000 0.040 3 8766599 intron variant A/C;G snv 0.020 1.000 2 2008 2016
dbSNP: rs577802449
rs577802449
SLC6A3
1 1.000 0.040 5 1414780 missense variant G/A snv 2.4E-05 2.8E-05 0.020 1.000 2 2013 2019
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: rs1026306398
rs1026306398
EN2
1 1.000 0.040 7 155458802 missense variant C/A;G;T snv 3.0E-04; 7.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs1033810883
rs1033810883
WNT1 ; WNT10B
1 1.000 0.040 12 48979625 missense variant A/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs10418707
rs10418707
DNMT1
1 1.000 0.040 19 10145541 intron variant G/A;T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10423341
rs10423341
DNMT1
1 1.000 0.040 19 10156590 intron variant C/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs11155819
rs11155819
ESR1
1 1.000 0.040 6 151878224 intron variant T/C snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs11236697
rs11236697
SHANK2
1 1.000 0.040 11 70576391 intron variant T/C snv 4.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1152582
rs1152582
ESR2 ; SYNE2
1 1.000 0.040 14 64225912 3 prime UTR variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1186689
rs1186689
KCNJ9 ; KCNJ10
1 1.000 0.040 1 160053263 intron variant G/T snv 0.49 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: rs1276905604
rs1276905604
GLRA2
1 1.000 0.040 X 14581319 missense variant A/G snv 9.5E-06 0.010 1.000 1 2016 2016
dbSNP: rs1331320684
rs1331320684
CNTN4
1 1.000 0.040 3 2988415 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1336089966
rs1336089966
SHANK3
1 1.000 0.040 22 50674675 missense variant C/T snv 0.010 1.000 1 2012 2012
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: rs139896303
rs139896303
TPH2
1 1.000 0.040 12 71972584 missense variant G/A snv 1.2E-04 5.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs141560292
rs141560292
NOS1AP ; LOC105371475
1 1.000 0.040 1 162154408 missense variant G/A snv 1.6E-05 7.7E-05 0.010 1.000 1 2010 2010
dbSNP: rs1488545
rs1488545
NLGN1
1 1.000 0.040 3 173765644 intron variant C/A snv 0.80 0.010 1.000 1 2005 2005
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: rs1564801388
rs1564801388
PTEN ; KLLN
1 1.000 0.040 10 87864353 5 prime UTR variant -/G delins 0.700 1.000 1 2019 2019
dbSNP: rs1564801473
rs1564801473
PTEN ; KLLN
1 1.000 0.040 10 87864406 5 prime UTR variant -/C delins 0.700 1.000 1 2019 2019
dbSNP: rs1564950387
rs1564950387
DEAF1
1 1.000 0.040 11 687909 splice donor variant A/C snv 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