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: rs45597035
rs45597035
KLF5
10 0.776 0.080 13 73075014 intron variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs4948317
rs4948317
BICC1
9 0.790 0.080 10 58811675 intron variant C/T snv 0.53 0.700 1.000 2 2014 2016
dbSNP: rs58658771
rs58658771 		13 0.776 0.080 15 32709533 intergenic variant T/A snv 0.20 0.700 1.000 2 2018 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: rs62404966
rs62404966
BMP5
10 0.776 0.080 6 55847326 intron variant C/T snv 0.18 0.700 1.000 2 2019 2019
dbSNP: rs7226855
rs7226855
SMAD7
9 0.790 0.080 18 48927678 intron variant A/G;T snv 0.700 1.000 2 2015 2019
dbSNP: rs72647484
rs72647484 		9 0.790 0.080 1 22261235 regulatory region variant T/C snv 6.2E-02 0.700 1.000 2 2015 2019
dbSNP: rs73208120
rs73208120
NOS1
9 0.790 0.080 12 117309785 intron variant T/G snv 7.1E-02 0.700 1.000 2 2015 2019
dbSNP: rs75954926
rs75954926
LOC107987251
10 0.776 0.080 17 83104098 upstream gene variant A/G snv 0.57 0.700 1.000 2 2019 2019
dbSNP: rs812481
rs812481
LRIG1
9 0.790 0.080 3 66392011 intron variant C/G snv 0.66 0.700 1.000 2 2015 2019
dbSNP: rs847208
rs847208 		9 0.790 0.080 16 86220445 downstream gene variant C/A snv 0.70 0.700 1.000 2 2018 2019
dbSNP: rs992157
rs992157
PNKD ; TMBIM1
10 0.790 0.080 2 218290058 5 prime UTR variant G/A snv 0.46 0.700 1.000 2 2018 2019
dbSNP: rs10049390
rs10049390
SLCO2A1
10 0.776 0.080 3 133982275 intron variant G/A snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs10152518
rs10152518 		9 0.790 0.080 15 67884824 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1028166
rs1028166
TENM3 ; TENM3-AS1
9 0.790 0.080 4 181892145 intron variant G/A snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs10457678
rs10457678
ECT2L
10 0.790 0.080 6 138801103 intron variant A/G snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs10511330
rs10511330
ZBTB20
10 0.776 0.080 3 114402172 intron variant T/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs10808555
rs10808555
POU5F1B ; CASC8 ; PCAT1
6 0.925 0.080 8 127397266 intron variant G/A snv 0.65 0.010 1.000 1 2008 2008
dbSNP: rs10821907
rs10821907 		12 0.776 0.080 10 50888694 upstream gene variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs10849433
rs10849433
LOC105369624
10 0.776 0.080 12 6297738 regulatory region variant T/C snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs10849438
rs10849438 		9 0.790 0.080 12 6302870 intergenic variant T/G snv 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs10904849
rs10904849
CUBN
9 0.790 0.080 10 16955267 intron variant G/A;T snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs10951878
rs10951878 		9 0.790 0.080 7 46887097 downstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10980628
rs10980628
LPAR1
10 0.776 0.080 9 110909123 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11064437
rs11064437
SPSB2
9 0.790 0.080 12 6872998 splice acceptor variant C/T snv 9.3E-02 0.700 1.000 1 2016 2016