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: rs112925537
rs112925537
INO80
2 15 41042015 intron variant -/C ins 0.700 1.000 1 2017 2017
dbSNP: rs35571646
rs35571646 		1 11 100662632 upstream gene variant -/CTAT ins 0.34 0.700 1.000 1 2019 2019
dbSNP: rs368910700
rs368910700
EBF1
1 5 158894394 intron variant -/TAAA ins 0.32 0.700 1.000 1 2019 2019
dbSNP: rs112349650
rs112349650
LINC01435
1 10 107916902 intron variant G/- del 1.4E-04 0.700 1.000 1 2019 2019
dbSNP: rs78763922
rs78763922 		2 4 143133400 intron variant AG/- del 0.27 0.700 1.000 1 2018 2018
dbSNP: rs10628234
rs10628234 		2 15 74918801 downstream gene variant -/CA delins 0.700 1.000 1 2018 2018
dbSNP: rs10712836
rs10712836 		1 8 125498975 intron variant A/- delins 0.48 0.700 1.000 1 2019 2019
dbSNP: rs111524356
rs111524356
CEP68 ; LOC107984063
2 2 65057022 intron variant -/GTGGATGCAGCAG;TGGATGCAGCAG;TGGATGCGGCAG;TGTATGCAGCAG delins 0.45 0.700 1.000 1 2019 2019
dbSNP: rs11399965
rs11399965 		1 3 134286877 intergenic variant AA/-;A;AAA;AAAA;AAAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs139385870
rs139385870
NADK
1 1 1754483 intron variant ACCGAAGTCGCCCCACCCTGGG/-;ACCGAAGTCGCCCCACCCTGGGACCGAAGTCGCCCCACCCTGGG delins 0.700 1.000 1 2017 2017
dbSNP: rs140473396
rs140473396
CNNM2
1 10 103036129 intron variant ACACACAC/-;AC;ACAC;ACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC delins 0.700 1.000 1 2019 2019
dbSNP: rs142065594
rs142065594 		1 11 107220703 intergenic variant -/GT delins 0.40 0.700 1.000 1 2019 2019
dbSNP: rs142457531
rs142457531 		1 2 190644147 intron variant -/TGAA delins 0.700 1.000 1 2019 2019
dbSNP: rs146216988
rs146216988
RGS19
1 20 64075882 intron variant CTTTT/- delins 0.20 0.700 1.000 1 2019 2019
dbSNP: rs149379258
rs149379258 		1 6 118333210 intergenic variant -/A delins 0.10 0.700 1.000 1 2019 2019
dbSNP: rs150155092
rs150155092
ADARB2
1 10 1727688 intron variant TA/-;TATA delins 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs201133964
rs201133964 		2 8 8750340 intron variant GT/- delins 0.700 1.000 1 2018 2018
dbSNP: rs201316070
rs201316070
AP5B1
1 11 65781088 upstream gene variant GACT/- delins 3.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs201851995
rs201851995
RSRC1
2 3 158119720 intron variant TTAT/- delins 1.4E-04 0.700 1.000 1 2018 2018
dbSNP: rs201936061
rs201936061
ARL17B
1 17 46281122 intron variant CT/- delins 3.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs202071545
rs202071545
CLCN6
2 1 11818105 intron variant AAAA/-;AAA;AAAAA;AAAAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs34271465
rs34271465
COBLL1
1 2 164656556 intron variant A/- delins 0.48 0.700 1.000 1 2017 2017
dbSNP: rs34862067
rs34862067
ESR1
1 6 152018839 intron variant -/GAA delins 0.22 0.700 1.000 1 2019 2019
dbSNP: rs35175632
rs35175632
ABHD17C
1 15 80745392 intron variant TT/-;T;TTT;TTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs35295665
rs35295665
CASZ1
2 1 10737371 intron variant -/C delins 0.700 1.000 1 2018 2018