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: rs4407073
rs4407073 		9 0.790 0.080 16 80022910 intergenic variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4546885
rs4546885
LAMC1
9 0.790 0.080 1 183056420 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs4711689
rs4711689
TFEB
9 0.790 0.080 6 41725074 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs4768903
rs4768903
DIP2B
9 0.790 0.080 12 50651666 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs481519
rs481519
NEK10
17 0.708 0.280 3 27285723 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4849303
rs4849303
ACOXL
9 0.790 0.080 2 110970905 intron variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs4954585
rs4954585 		9 0.790 0.080 2 136240824 intergenic variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs4968127
rs4968127
NXN
10 0.776 0.080 17 906403 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs57046232
rs57046232 		9 0.790 0.080 20 6399697 intergenic variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs58791712
rs58791712 		9 0.790 0.080 5 40281696 intergenic variant T/-;TT;TTT delins 0.700 1.000 1 2019 2019
dbSNP: rs6055286
rs6055286 		9 0.790 0.080 20 7737398 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6091213
rs6091213 		9 0.790 0.080 20 50768208 TF binding site variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs61389091
rs61389091
CHRDL2
10 0.776 0.080 11 74716876 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs61510274
rs61510274
SLCO2A1
9 0.790 0.080 3 134030671 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs63751127
rs63751127
MSH6 ; FBXO11
5 0.882 0.200 2 47800177 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs6678517
rs6678517
LAMC1
10 0.776 0.080 1 183033504 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6928864
rs6928864 		9 0.790 0.080 6 105519019 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs694339
rs694339
CBLN2
9 0.790 0.080 18 72554745 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7121958
rs7121958
POLD3
10 0.776 0.080 11 74568967 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs7315438
rs7315438
LOC105370003
9 0.790 0.080 12 115453598 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7528276
rs7528276
MACF1
9 0.790 0.080 1 39344315 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs7606562
rs7606562
PPP1R21
9 0.790 0.080 2 48459556 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs7708610
rs7708610 		10 0.776 0.080 5 40102341 intergenic variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs772862415
rs772862415
CD44
1 1.000 0.080 11 35211278 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs773393960
rs773393960
PMS2
1 1.000 0.080 7 5977653 missense variant G/A;C snv 8.1E-06; 1.2E-05 0.010 1.000 1 2017 2017