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: rs138740
rs138740
TOM1
3 0.882 0.160 22 35303589 intron variant C/T snv 0.51 0.700 1.000 1 2015 2015
dbSNP: rs56219066
rs56219066
ELL2
3 0.882 0.160 5 95907227 intron variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs57104699
rs57104699
DNAH11
3 0.882 0.160 7 21888461 intron variant C/A snv 0.26 0.700 1.000 1 2015 2015
dbSNP: rs57968458
rs57968458 		3 0.882 0.160 17 16916785 intergenic variant G/A snv 0.15 0.700 1.000 1 2015 2015
dbSNP: rs6919908
rs6919908
HLA-B ; USP8P1
3 0.882 0.160 6 31277183 non coding transcript exon variant T/C snv 0.83 0.700 1.000 1 2015 2015
dbSNP: rs73071352
rs73071352
ULK4
3 0.882 0.160 3 41786808 intron variant A/G snv 0.12 0.700 1.000 1 2015 2015
dbSNP: rs74998556
rs74998556
TNFRSF13B
2 0.925 0.080 17 16936468 intron variant A/T snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs9848754
rs9848754
ULK4
3 0.882 0.160 3 41712155 intron variant C/T snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.030 1.000 3 2015 2019