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: 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: rs1565527302
rs1565527302
SHANK2
1 1.000 0.040 11 70485988 frameshift variant TG/- del 0.700 1.000 1 2019 2019
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: rs201292141
rs201292141
CADM1
1 1.000 0.040 11 115217961 missense variant T/G snv 3.9E-04 9.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs2237659
rs2237659
COG5
1 1.000 0.040 7 107207047 intron variant T/G snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs2279709
rs2279709
SLC18A1
5 0.882 0.120 8 20178722 intron variant T/G snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs4844286
rs4844286
NLGN3
1 1.000 0.040 X 71151724 intron variant T/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1557874046
rs1557874046
POGZ
1 1.000 0.040 1 151408807 missense variant T/G snv 0.700 0
dbSNP: rs779867
rs779867
GRM7
9 0.776 0.120 3 7442784 intron variant T/C;G snv 0.020 1.000 2 2013 2016
dbSNP: rs10497655
rs10497655
ZNF804A ; LOC105373780
2 1.000 0.040 2 184597314 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs2270641
rs2270641
SLC18A1
3 0.882 0.120 8 20180955 missense variant T/C;G snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs370498156
rs370498156
POGZ
1 1.000 0.040 1 151404903 missense variant T/C;G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs749548928
rs749548928
POGZ
1 1.000 0.040 1 151408815 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs1861973
rs1861973
EN2
2 0.925 0.040 7 155461450 intron variant T/C snv 0.73 0.040 1.000 4 2005 2014
dbSNP: rs2056202
rs2056202
SLC25A12
4 0.882 0.040 2 171855970 intron variant T/C snv 0.81 0.77 0.040 1.000 4 2008 2017
dbSNP: rs2292813
rs2292813
SLC25A12
3 0.882 0.040 2 171787719 intron variant T/C snv 0.81 0.040 1.000 4 2008 2017
dbSNP: rs237889
rs237889
CAV3 ; OXTR
2 0.925 0.040 3 8760797 intron variant T/C snv 0.71 0.020 1.000 2 2008 2016
dbSNP: rs4141463
rs4141463
MACROD2
3 0.925 0.040 20 14766825 intron variant T/C snv 0.50 0.020 1.000 2 2011 2019
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 2017 2017
dbSNP: rs1060826
rs1060826
NOS2
4 0.851 0.160 17 27762841 synonymous variant T/C snv 0.66 0.67 0.010 1.000 1 2009 2009
dbSNP: rs10877969
rs10877969
AVPR1A
6 0.882 0.120 12 63153459 intron variant T/C snv 0.26 0.010 1.000 1 2010 2010
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