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: rs2732875
rs2732875
SHROOM2
9 0.790 0.080 X 9795858 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs5934683
rs5934683
GPR143
9 0.790 0.080 X 9783434 intron variant T/C snv 0.50 0.700 1.000 1 2012 2012
dbSNP: rs764355898
rs764355898
NRK
1 1.000 0.080 X 105923145 missense variant A/C snv 7.9E-05 1.9E-05 0.700 0
dbSNP: rs5753618
rs5753618
DRG1 ; EIF4ENIF1
9 0.790 0.080 22 31442532 intron variant C/T snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs137853007
rs137853007
CHEK2
9 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.700 0
dbSNP: rs555607708
rs555607708
CHEK2
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs2423279
rs2423279 		10 0.790 0.080 20 7831703 downstream gene variant T/C snv 0.29 0.700 1.000 4 2013 2019
dbSNP: rs6066825
rs6066825
PREX1
10 0.776 0.080 20 48723580 intron variant A/G;T snv 0.700 1.000 4 2015 2019
dbSNP: rs961253
rs961253 		15 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 0.700 1.000 4 2008 2019
dbSNP: rs2427308
rs2427308
CABLES2
10 0.790 0.080 20 62394395 intron variant C/T snv 0.22 0.700 1.000 3 2014 2019
dbSNP: rs4813802
rs4813802 		11 0.776 0.080 20 6718948 regulatory region variant T/G snv 0.28 0.700 1.000 3 2019 2019
dbSNP: rs1741640
rs1741640
LAMA5
10 0.776 0.080 20 62357358 intron variant T/C snv 0.66 0.700 1.000 2 2019 2019
dbSNP: rs1810502
rs1810502 		9 0.790 0.080 20 50440951 intergenic variant C/T snv 0.49 0.700 1.000 2 2019 2019
dbSNP: rs6065668
rs6065668 		9 0.790 0.080 20 43904181 regulatory region variant C/T snv 0.23 0.700 1.000 2 2018 2019
dbSNP: rs11087784
rs11087784 		10 0.776 0.080 20 7760329 intergenic variant A/G snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs11907546
rs11907546 		17 0.708 0.280 20 34131991 upstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs13831
rs13831
GNAS
9 0.790 0.080 20 58900136 3 prime UTR variant A/G snv 0.77 0.700 1.000 1 2019 2019
dbSNP: rs189583
rs189583 		10 0.776 0.080 20 6395810 regulatory region variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2179593
rs2179593
TOX2
11 0.790 0.080 20 44031646 intron variant C/A snv 0.71 0.700 1.000 1 2019 2019
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: rs2738783
rs2738783
RTEL1 ; RTEL1-TNFRSF6B
11 0.763 0.160 20 63677259 intron variant T/G snv 0.85 0.700 1.000 1 2019 2019
dbSNP: rs28488
rs28488 		10 0.776 0.080 20 6781574 downstream gene variant C/T snv 0.68 0.700 1.000 1 2019 2019
dbSNP: rs3787089
rs3787089
RTEL1 ; RTEL1-TNFRSF6B
9 0.790 0.080 20 63685277 intron variant C/T snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs4811050
rs4811050
LOC105372657
9 0.790 0.080 20 50364133 intergenic variant G/A snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs4925386
rs4925386
LAMA5
14 0.776 0.080 20 62345988 intron variant T/C snv 0.56 0.700 1.000 1 2010 2010