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: rs1490428165
rs1490428165
TEK
1 1.000 0.040 9 27209192 missense variant C/G;T snv 4.0E-06 0.700 0
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: rs1862626
rs1862626 		17 0.708 0.280 5 56737113 regulatory region variant G/T snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs186507655
rs186507655 		17 0.708 0.280 1 1351675 upstream gene variant G/A snv 6.8E-03 0.700 1.000 1 2016 2016
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: 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: rs192876988
rs192876988
LOC105377300
4 0.851 0.120 4 79376097 intergenic variant T/C snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs199897804
rs199897804
CDKL5
1 1.000 0.040 X 18604645 missense variant C/A;T snv 4.9E-05 0.700 0
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: rs2300206
rs2300206
RALY
17 0.708 0.280 20 34002002 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2974935
rs2974935
MTX1
17 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
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: rs4808075
rs4808075
BABAM1 ; USHBP1
18 0.701 0.280 19 17279482 intron variant T/C snv 0.26 0.700 1.000 2 2016 2017
dbSNP: rs481519
rs481519
NEK10
17 0.708 0.280 3 27285723 intron variant C/A;T snv 0.700 1.000 1 2016 2016
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: rs56084662
rs56084662
FRY
18 0.701 0.280 13 32295727 3 prime UTR variant G/A snv 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs56404467
rs56404467
FRY
17 0.708 0.280 13 32265853 intron variant G/A snv 1.3E-02 0.700 1.000 1 2016 2016
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: 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: rs66459581
rs66459581
PRPSAP1
1 1.000 0.040 17 76359184 intron variant C/- del 0.11 0.700 1.000 1 2019 2019
dbSNP: rs6755777
rs6755777
HAGLR ; HAGLROS
3 0.882 0.120 2 176178498 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs711830
rs711830
HOXD3 ; HAGLR
3 0.882 0.120 2 176172583 3 prime UTR variant A/C;G;T snv 0.76 0.700 1.000 1 2017 2017