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: rs1278838206
rs1278838206
PCDH19
3 0.925 0.200 X 100296654 missense variant C/T snv 1.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs121918363
rs121918363
SRPX2
2 0.925 0.200 X 100667292 missense variant A/G snv 5.7E-04 4.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs9390754
rs9390754
GRIK2
1 1.000 0.040 6 101517038 intron variant A/G snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs4840200
rs4840200
GRIK2
1 1.000 0.040 6 101879428 intron variant T/C snv 7.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs3213607
rs3213607
GRIK2
2 0.925 0.080 6 102035481 synonymous variant C/A;T snv 6.5E-02; 2.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs2235076
rs2235076
GRIK2
2 0.925 0.080 6 102068385 missense variant G/A snv 1.8E-02 1.7E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs200345816
rs200345816
CUX1 ; SH2B2
3 0.925 0.040 7 102283048 missense variant C/G;T snv 6.0E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs71547482
rs71547482 		1 1.000 0.040 6 103600058 intergenic variant -/TGCAATCT delins 0.11 0.700 1.000 1 2019 2019
dbSNP: rs1470522542
rs1470522542
RELN
1 1.000 0.040 7 103989335 missense variant G/A;C snv 5.0E-06; 5.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs71568191
rs71568191 		2 1.000 0.040 6 104230957 intergenic variant G/A snv 8.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs9694676
rs9694676
LRP12
2 0.925 0.080 8 104588948 5 prime UTR variant A/G snv 8.6E-02 0.20 0.010 1.000 1 2016 2016
dbSNP: rs72700966
rs72700966
PTPRD
1 1.000 0.040 9 10505224 intron variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1562927768
rs1562927768
KMT2E
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs374319146
rs374319146
TBCK
6 0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 0.700 0
dbSNP: rs575822089
rs575822089
TBCK
3 0.882 0.120 4 106262103 stop gained G/A snv 7.7E-05 2.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs2930491
rs2930491 		2 1.000 0.040 8 106830066 intergenic variant C/G;T snv 0.20 0.700 1.000 1 2015 2015
dbSNP: rs1554823375
rs1554823375
WDR37
8 0.851 0.160 10 1080454 missense variant C/T snv 0.700 0
dbSNP: rs192669225
rs192669225
AMPD2
3 0.925 0.040 1 109628692 missense variant G/A snv 0.700 0
dbSNP: rs536289169
rs536289169
GSTM1 ; GSTM2
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs11214136
rs11214136
BCO2
1 1.000 0.040 11 112211286 intron variant T/C snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2012 2012
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.020 1.000 2 2013 2018
dbSNP: rs1553709380
rs1553709380
ATP6V1A
3 0.925 0.040 3 113778833 missense variant C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1553709855
rs1553709855
ATP6V1A
2 0.925 0.040 3 113784310 missense variant G/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1553710664
rs1553710664
ATP6V1A
2 0.925 0.040 3 113794928 missense variant G/A snv 0.010 1.000 1 2018 2018