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: rs1135401732
rs1135401732
HNRNPU
1 1.000 0.040 1 244859303 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1135401733
rs1135401733
HNRNPU
3 1.000 0.040 1 244856757 stop gained G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1135401734
rs1135401734
HNRNPU ; SNORA100
1 1.000 0.040 1 244855505 frameshift variant AG/- del 0.700 1.000 1 2017 2017
dbSNP: rs769074339
rs769074339
PIGV
1 1.000 0.040 1 26797650 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs779453109
rs779453109
HNRNPU
1 1.000 0.040 1 244863648 frameshift variant GCCTTCCGCC/- delins 1.2E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs786205232
rs786205232
KCNA2
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs536000212
rs536000212
TRIT1
1 1.000 0.040 1 39854050 frameshift variant G/- delins 3.2E-04 0.700 0
dbSNP: rs764618040
rs764618040
PHGDH ; LOC105378936
2 1.000 0.040 1 119726868 missense variant C/T snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs886041874
rs886041874
PHGDH
2 1.000 0.040 1 119721323 splice donor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1057518801
rs1057518801
SCN3A
5 0.851 0.080 2 165130238 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs121917750
rs121917750
SCN2A
2 0.925 0.080 2 165386881 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs387906685
rs387906685
SCN2A
2 0.925 0.040 2 165380702 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs796053134
rs796053134
SCN2A
5 0.827 0.080 2 165374737 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs796053174
rs796053174
SCN2A
1 1.000 0.040 2 165310515 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519524
rs1057519524
SCN2A
2 0.925 0.040 2 165386837 missense variant T/C snv 0.700 0
dbSNP: rs1057519526
rs1057519526
SCN2A
2 0.925 0.040 2 165344679 missense variant C/T snv 0.700 0
dbSNP: rs1057519527
rs1057519527
SCN2A
2 0.925 0.040 2 165374743 missense variant G/A snv 0.700 0
dbSNP: rs1057519528
rs1057519528
SCN2A
2 0.925 0.040 2 165310376 missense variant G/A snv 0.700 0
dbSNP: rs1057519529
rs1057519529
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166043864 missense variant C/G snv 0.700 0
dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
dbSNP: rs1553567473
rs1553567473
SCN2A
2 0.925 0.040 2 165309193 missense variant A/G snv 0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
dbSNP: rs794726754
rs794726754
SCN1A ; SCN1A-AS1 ; LOC102724058
2 0.925 0.040 2 165992262 frameshift variant ACAA/- delins 0.700 0
dbSNP: rs794727444
rs794727444
SCN2A
2 0.925 0.040 2 165389451 missense variant G/A;T snv 0.700 0
dbSNP: rs796052957
rs796052957
SCN1A ; SCN1A-AS1
3 0.925 0.040 2 166054735 missense variant A/G snv 0.700 0