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 0.050 0.800 5 2012 2019
dbSNP: rs10251201
rs10251201
UMAD1
4 0.851 0.160 7 7932654 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs104893626
rs104893626
CXCR4 ; LOC112268426
11 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1052501
rs1052501
ULK4
2 0.925 0.160 3 41883906 missense variant C/G;T snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs1242982981
rs1242982981
CLEC12A
4 0.851 0.160 12 9984989 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs16966921
rs16966921
GALNT1
1 1.000 0.080 18 35625933 intron variant A/G snv 9.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs201478192
rs201478192
KIDINS220
12 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 0.010 1.000 1 2007 2007
dbSNP: rs2285803
rs2285803
PSORS1C1 ; PSORS1C2
2 0.925 0.160 6 31139481 intron variant T/C snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs4273077
rs4273077
TNFRSF13B
4 0.925 0.160 17 16945825 intron variant A/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs4487645
rs4487645
DNAH11
3 0.882 0.200 7 21898622 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.010 1.000 1 2018 2018
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2007 2007