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: rs1530440
rs1530440
CABCOCO1
6 1.000 0.040 10 61764833 intron variant C/T snv 0.15 0.700 1.000 3 2016 2018
dbSNP: rs1563788
rs1563788
ZNF318
4 6 43340625 intron variant C/T snv 0.42 0.700 1.000 3 2015 2018
dbSNP: rs17010957
rs17010957
ARHGAP24
2 4 85798012 intron variant T/A;C snv 0.700 1.000 3 2016 2018
dbSNP: rs17035646
rs17035646
CASZ1
6 1 10736490 intron variant G/A;T snv 0.700 1.000 3 2018 2019
dbSNP: rs1731249
rs1731249
KCNK3
5 2 26697157 intron variant T/A snv 0.48 0.700 1.000 3 2018 2018
dbSNP: rs17477177
rs17477177 		4 1.000 0.080 7 106771412 upstream gene variant T/C snv 0.17 0.700 1.000 3 2017 2018
dbSNP: rs1813353
rs1813353
CACNB2
5 10 18418519 intron variant T/C snv 0.29 0.700 1.000 3 2017 2018
dbSNP: rs1887320
rs1887320 		6 20 10985350 intron variant G/A snv 0.46 0.700 1.000 3 2015 2019
dbSNP: rs2014912
rs2014912
ARHGAP24
1 4 85794517 intron variant T/C snv 0.84 0.700 1.000 3 2015 2017
dbSNP: rs2023843
rs2023843
HOTTIP
2 7 27203602 intron variant C/T snv 0.90 0.700 1.000 3 2016 2019
dbSNP: rs2107595
rs2107595 		15 0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19 0.700 1.000 3 2017 2019
dbSNP: rs2270860
rs2270860
SLC22A7 ; CRIP3
4 6 43302413 splice region variant C/T snv 0.37 0.43 0.700 1.000 3 2016 2018
dbSNP: rs2681492
rs2681492
ATP2B1
10 0.925 0.040 12 89619312 intron variant T/C;G snv 0.700 1.000 3 2009 2018
dbSNP: rs2932538
rs2932538
MOV10
4 1 112673921 intron variant A/C;G snv 0.700 1.000 3 2011 2017
dbSNP: rs35443
rs35443 		5 12 115115073 intergenic variant G/C snv 0.40 0.700 1.000 3 2018 2018
dbSNP: rs3741378
rs3741378
SIPA1
8 0.851 0.080 11 65641466 missense variant C/G;T snv 0.15 0.700 1.000 3 2016 2018
dbSNP: rs3790604
rs3790604
WNT2B
5 1 112504257 intron variant C/A snv 7.8E-02 0.700 1.000 3 2018 2019
dbSNP: rs3821843
rs3821843
CACNA1D
3 3 53523985 intron variant G/A snv 0.72 0.700 1.000 3 2017 2019
dbSNP: rs57400569
rs57400569
FAM13A
1 4 88831125 intron variant G/A snv 0.22 0.700 1.000 3 2017 2019
dbSNP: rs6021247
rs6021247
NFATC2
7 1.000 0.080 20 51492442 intron variant G/A snv 0.65 0.700 1.000 3 2018 2019
dbSNP: rs6031431
rs6031431
JPH2
4 20 44166512 intron variant A/G snv 0.46 0.700 1.000 3 2018 2019
dbSNP: rs6108787
rs6108787 		5 20 10986566 intron variant T/G snv 0.46 0.700 1.000 3 2017 2019
dbSNP: rs6271
rs6271
DBH ; DBH-AS1
5 1.000 0.040 9 133657152 missense variant C/T snv 4.6E-02 4.8E-02 0.700 1.000 3 2016 2019
dbSNP: rs6595838
rs6595838
FBN2
2 5 128532506 intron variant G/A snv 0.41 0.700 1.000 3 2017 2019
dbSNP: rs661348
rs661348
LSP1
5 11 1884062 intron variant T/C snv 0.43 0.37 0.700 1.000 3 2017 2018