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: rs4721135
rs4721135
MAD1L1
1 7 1872586 intron variant A/G snv 0.37 0.800 1.000 1 2010 2010
dbSNP: rs4732038
rs4732038
AKR1B15
1 7 134565570 intron variant A/C snv 0.51 0.52 0.800 1.000 1 2010 2010
dbSNP: rs4745062
rs4745062
TRPM3
1 9 71169348 intron variant C/T snv 0.40 0.800 1.000 1 2010 2010
dbSNP: rs4891159
rs4891159
ZNF516
1 18 76389985 intron variant G/A snv 0.35 0.800 1.000 1 2010 2010
dbSNP: rs4904670
rs4904670
NRDE2
1 14 90303866 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs5766691
rs5766691
TBC1D22A
1 22 47136753 intron variant A/G snv 0.73 0.800 1.000 1 2010 2010
dbSNP: rs61856137
rs61856137
AKR1C3 ; LOC107984198
1 10 5045786 intron variant G/T snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs62127362
rs62127362
CEP89
1 19 32967573 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs6568433
rs6568433
CRYBG1
1 6 106381662 intron variant T/C snv 0.48 0.800 1.000 1 2010 2010
dbSNP: rs6740706
rs6740706
LRRFIP1
1 2 237719866 intron variant C/T snv 0.86 0.700 1.000 1 2018 2018
dbSNP: rs7039467
rs7039467
CDKN2B-AS1
1 9 22056214 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs739401
rs739401
CARS1
2 11 3015094 intron variant C/T snv 0.45 0.800 1.000 1 2010 2010
dbSNP: rs7676745
rs7676745
GPR78
1 4 8563820 intron variant G/A snv 5.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs7874142
rs7874142
COL5A1
1 9 134812936 intron variant G/A snv 0.62 0.800 1.000 1 2010 2010
dbSNP: rs7894051
rs7894051
ECHS1
1 10 133370917 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs9517320
rs9517320
STK24
1 13 98474049 intron variant A/C snv 0.55 0.800 1.000 1 2010 2010
dbSNP: rs9841144
rs9841144
CADM2
1 3 85482049 intron variant A/T snv 0.17 0.700 1.000 1 2015 2015
dbSNP: rs9876781
rs9876781
CCDC51 ; ATRIP ; ATRIP-TREX1
1 3 48445934 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs10934524
rs10934524 		1 3 96431316 intergenic variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs138762279
rs138762279 		1 5 174283195 intergenic variant T/- del 0.34 0.700 1.000 1 2019 2019
dbSNP: rs1416280
rs1416280 		1 6 102438768 intergenic variant C/G snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs1425609
rs1425609 		1 3 162964207 intergenic variant G/A snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs145672791
rs145672791 		1 21 13377702 intergenic variant G/A snv 8.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs2031577
rs2031577 		1 10 4007811 intergenic variant A/G snv 0.53 0.800 1.000 1 2010 2010
dbSNP: rs2882281
rs2882281 		1 13 89970201 intergenic variant C/A;G;T snv 0.800 1.000 1 2010 2010