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: rs2518564
rs2518564
AIM2
1 1 159092646 intron variant G/A snv 0.60 0.800 1.000 3 2011 2019
dbSNP: rs3747869
rs3747869
CDH23 ; VSIR
1 10 71760875 missense variant A/C snv 0.88 0.90 0.700 1.000 3 2016 2019
dbSNP: rs11264422
rs11264422 		1 1 155938032 upstream gene variant T/A snv 0.48 0.800 1.000 2 2011 2019
dbSNP: rs1962508
rs1962508 		1 1 161975629 intergenic variant C/A snv 0.45 0.800 1.000 2 2011 2019
dbSNP: rs2369135
rs2369135 		1 1 159549102 intergenic variant G/A snv 0.84 0.700 1.000 2 2016 2019
dbSNP: rs56011263
rs56011263
PCGF3
1 4 709183 intron variant T/C snv 0.35 0.700 1.000 2 2016 2019
dbSNP: rs565021665
rs565021665 		1 1 159313100 downstream gene variant TTTTTTTTTTTTTT/-;TTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTT delins 7.4E-02 0.700 1.000 2 2016 2019
dbSNP: rs6684709
rs6684709
E2F2 ; LOC101928163
1 1 23523531 intron variant G/C snv 0.50 0.700 1.000 2 2016 2019
dbSNP: rs7036656
rs7036656
CDKN2A
1 9 21990458 intron variant C/T snv 0.74 0.700 1.000 2 2016 2019
dbSNP: rs7934719
rs7934719
C11orf65
1 11 108471137 upstream gene variant C/T snv 0.44 0.700 1.000 2 2016 2019
dbSNP: rs10016631
rs10016631
POLR2B
1 4 57019797 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1006310
rs1006310
ATF6
1 1 161841765 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs10094382
rs10094382
CHD7
1 8 60860726 intron variant C/T snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs1010109
rs1010109
ARHGAP26
1 5 143174597 intron variant A/G snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs10120452
rs10120452
GABBR2
1 9 98623959 intron variant G/A snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs10129035
rs10129035 		1 12 83706429 intergenic variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1015022
rs1015022
ERG ; LOC105372802
1 21 38507058 intron variant G/C snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs10158210
rs10158210 		1 1 158342195 intergenic variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1016680
rs1016680 		1 17 37514283 downstream gene variant A/C snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs10178094
rs10178094
RBMS1
1 2 160479895 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10178249
rs10178249
CNTNAP5
1 2 124696819 intron variant A/G snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs1023667
rs1023667 		1 5 158541893 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10252662
rs10252662 		1 7 44771624 downstream gene variant C/T snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs10273974
rs10273974
ZC3HAV1
1 7 139050766 intron variant A/C snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs1029809
rs1029809
PIGL
1 17 16252921 intron variant A/G snv 0.41 0.700 1.000 1 2019 2019