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: rs201023017
rs201023017
SLC9A9
1 1.000 0.120 3 143384827 intron variant T/- del 0.700 1.000 1 2016 2016
dbSNP: rs295315
rs295315 		1 1.000 0.120 3 141643383 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs34097398
rs34097398 		1 1.000 0.120 X 33452415 intergenic variant A/-;AA;AAA;AAAA;AAAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs34344307
rs34344307 		1 1.000 0.120 16 77008512 intergenic variant TTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs34357515
rs34357515
NCLN
1 1.000 0.120 19 3197622 intron variant TTT/-;T;TT;TTTT;TTTTT;TTTTTT;TTTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs3842595
rs3842595
SNCAIP ; MGC32805
1 1.000 0.120 5 122442912 intron variant A/-;AA;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs561504284
rs561504284 		1 1.000 0.120 17 46262887 upstream gene variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs58355101
rs58355101
CNOT2
1 1.000 0.120 12 70257391 intron variant C/T snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs59923016
rs59923016
ZNF423
1 1.000 0.120 16 49765545 intron variant CA/-;CACA;CACACA;CACACACA;CACACACACA delins 0.700 1.000 1 2019 2019
dbSNP: rs6134303
rs6134303 		1 1.000 0.120 20 11586401 intergenic variant T/G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs6456822
rs6456822
GPX6
1 1.000 0.120 6 28512858 intron variant T/C snv 0.41 0.700 1.000 1 2017 2017
dbSNP: rs66696671
rs66696671 		1 1.000 0.120 10 119607441 intergenic variant G/T snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs7206411
rs7206411
CMIP
1 1.000 0.120 16 81619883 non coding transcript exon variant T/C snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs75921351
rs75921351 		1 1.000 0.120 16 54596587 intergenic variant C/T snv 3.1E-03 0.700 1.000 1 2018 2018
dbSNP: rs789336
rs789336
PRANCR
1 1.000 0.120 12 70028700 intron variant C/T snv 0.35 0.700 1.000 1 2018 2018
dbSNP: rs7969255
rs7969255
PRANCR
1 1.000 0.120 12 70148026 intron variant T/G snv 0.82 0.700 1.000 1 2018 2018
dbSNP: rs8069681
rs8069681 		1 1.000 0.120 17 5064847 downstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs9886651
rs9886651
PVT1
1 1.000 0.120 8 127805637 intron variant A/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs1064796722
rs1064796722
TP53
1 1.000 0.120 17 7676043 missense variant A/C;G snv 0.700 0
dbSNP: rs1195793509
rs1195793509
TP53
1 1.000 0.120 17 7676210 stop gained -/CATT delins 0.700 0
dbSNP: rs1202793339
rs1202793339
TP53
1 1.000 0.120 17 7674972 splice acceptor variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1212996409
rs1212996409
TP53
1 1.000 0.120 17 7675197 stop gained T/A;C snv 0.700 0
dbSNP: rs1267047192
rs1267047192
TP53
1 1.000 0.120 17 7675997 frameshift variant -/C delins 0.700 0
dbSNP: rs1314180672
rs1314180672
CHEK1
1 1.000 0.120 11 125627605 splice acceptor variant A/G;T snv 7.0E-06 0.700 0
dbSNP: rs1327418487
rs1327418487
MRPS18C ; ABRAXAS1
1 1.000 0.120 4 83462555 frameshift variant -/T delins 7.0E-05 0.700 0