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: rs7852462
rs7852462
TMOD1
2 0.925 0.080 9 97548219 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs9823696
rs9823696 		2 0.925 0.080 3 184065565 downstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9918259
rs9918259
TPPP ; CEP72
2 0.925 0.080 5 662977 3 prime UTR variant C/T snv 2.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs11631094
rs11631094
SLC12A6
1 1.000 0.080 15 34332237 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1548445
rs1548445
VPS35L
1 1.000 0.080 16 19680261 intron variant A/G snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs2671828
rs2671828 		1 1.000 0.080 17 35404745 upstream gene variant T/C snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs491603
rs491603
AGO3
2 1.000 0.080 1 36066715 3 prime UTR variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs9668109
rs9668109
IKBIP
1 1.000 0.080 12 98617494 intron variant G/A snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs11901649
rs11901649
APOB
3 0.882 0.080 2 21027351 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4676893
rs4676893 		3 0.882 0.080 3 70868488 intergenic variant A/T snv 0.61 0.700 1.000 1 2019 2019