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: rs116046250
rs116046250
GABRG3
1 1.000 0.040 15 26986803 intron variant T/G snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs13113999
rs13113999 		1 1.000 0.040 4 166265894 intergenic variant T/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs150293538
rs150293538
LINC01111
1 1.000 0.040 8 76408119 intron variant C/T snv 1.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs37792
rs37792 		1 1.000 0.040 5 53348817 intergenic variant G/A snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs57403204
rs57403204 		1 1.000 0.040 X 141990766 intron variant A/G snv 3.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs66459581
rs66459581
PRPSAP1
1 1.000 0.040 17 76359184 intron variant C/- del 0.11 0.700 1.000 1 2019 2019
dbSNP: rs79079890
rs79079890
LOC105376360 ; LOC107984193
1 1.000 0.040 10 3641956 intergenic variant T/G snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs9870207
rs9870207 		1 1.000 0.040 3 190807727 intergenic variant A/G snv 0.43 0.700 1.000 1 2017 2017
dbSNP: rs1279653488
rs1279653488
ERN1
1 1.000 0.040 17 64047898 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1411105125
rs1411105125
MAST1
1 1.000 0.040 19 12873875 missense variant C/T snv 0.700 0
dbSNP: rs1490428165
rs1490428165
TEK
1 1.000 0.040 9 27209192 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs190220654
rs190220654
SLK
1 1.000 0.040 10 104002988 missense variant G/C snv 1.2E-04 4.2E-05 0.700 0
dbSNP: rs199897804
rs199897804
CDKL5
1 1.000 0.040 X 18604645 missense variant C/A;T snv 4.9E-05 0.700 0
dbSNP: rs540521894
rs540521894
NTRK1
1 1.000 0.040 1 156864760 missense variant C/A;T snv 4.0E-06; 5.6E-05 2.1E-05 0.700 0
dbSNP: rs746442213
rs746442213
ALK
1 1.000 0.040 2 29232307 missense variant C/A;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs10962692
rs10962692 		3 0.925 0.120 9 16915876 upstream gene variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1400482
rs1400482
LINC00824
2 0.925 0.120 8 128529685 intron variant G/A snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs144962376
rs144962376
MLLT10
2 0.925 0.120 10 21589903 intron variant CCCCTT/-;CCCCTTCCCCTT delins 0.700 1.000 1 2017 2017
dbSNP: rs1879586
rs1879586
PLEKHM1
2 0.925 0.120 17 45489971 intron variant C/G snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs2165109
rs2165109
ACOXL ; MIR4435-2HG
2 0.925 0.120 2 111061081 intron variant A/C snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs58722170
rs58722170
RSPO1
2 0.925 0.120 1 37630749 intron variant G/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs6005807
rs6005807
TTC28 ; LOC101929594
2 0.925 0.120 22 28538325 intron variant T/C snv 0.89 0.700 1.000 1 2017 2017
dbSNP: rs62274041
rs62274041 		3 0.925 0.120 3 156717851 upstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7207826
rs7207826
SKAP1
2 0.925 0.120 17 48423311 intron variant T/C snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs7902587
rs7902587 		2 0.925 0.080 10 103934543 intergenic variant C/T snv 0.11 0.700 1.000 1 2017 2017