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: rs1114167356
rs1114167356
TPM1
1 1.000 0.080 15 63062261 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs762292772
rs762292772
SHANK3
4 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 1.000 1 2015 2015
dbSNP: rs1555226315
rs1555226315
TBX5
4 0.925 0.120 12 114398639 stop gained C/T snv 0.700 0
dbSNP: rs16835979
rs16835979
STX18-AS1
6 0.851 0.120 4 4633549 intron variant C/A snv 0.20 0.020 1.000 2 2014 2016
dbSNP: rs6824295
rs6824295
STX18-AS1
6 0.851 0.120 4 4612553 intron variant C/T snv 0.20 0.020 1.000 2 2014 2016
dbSNP: rs1340513
rs1340513
KDM4C
4 0.882 0.120 9 6977633 intron variant G/A snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs141441277
rs141441277
SYTL4
5 0.882 0.120 X 100689933 missense variant G/A snv 5.6E-04 3.8E-04 0.010 1.000 1 2019 2019
dbSNP: rs1800692
rs1800692
TNFRSF1A
5 0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71 0.010 1.000 1 2013 2013
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2019 2019
dbSNP: rs2298444
rs2298444
FOLR2
3 0.925 0.120 11 72221370 intron variant T/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2016 2016
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs769236847
rs769236847
ASNS ; CZ1P-ASNS
8 0.807 0.200 7 97869011 missense variant C/T snv 4.0E-06 3.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs769402060
rs769402060
CYP1B1 ; CYP1B1-AS1
3 0.925 0.120 2 38075022 missense variant A/G snv 3.3E-05 4.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs779545541
rs779545541
GPHN
5 0.882 0.120 14 66965293 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs870142
rs870142
STX18-AS1
7 0.851 0.120 4 4646320 intron variant C/G;T snv 0.010 1.000 1 2016 2016