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: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs151394
rs151394
SLC39A8
1 1.000 0.040 4 102263495 intron variant G/C snv 0.82 0.010 1.000 1 2019 2019
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.750 1.000 7 2015 2019
dbSNP: rs13114343
rs13114343
SLC39A8
1 1.000 0.040 4 102268259 intron variant G/A snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs10014145
rs10014145
SLC39A8
1 1.000 0.040 4 102279420 intron variant A/G snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs233814
rs233814
SLC39A8
1 1.000 0.040 4 102287546 intron variant T/C snv 0.79 0.010 1.000 1 2019 2019
dbSNP: rs4698844
rs4698844
SLC39A8
1 1.000 0.040 4 102296823 intron variant C/T snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs1035130
rs1035130
IL18R1
2 1.000 0.040 2 102384942 synonymous variant C/T snv 0.26 0.24 0.010 1.000 1 2016 2016
dbSNP: rs6878284
rs6878284
SLCO6A1
2 0.925 0.040 5 102434022 intron variant C/T snv 0.64 0.810 0.667 3 2013 2016
dbSNP: rs11465702
rs11465702
IL18RAP
1 1.000 0.040 2 102441432 intron variant A/G snv 0.12 0.010 1.000 1 2008 2008
dbSNP: rs7734060
rs7734060
SLCO6A1
2 0.925 0.040 5 102444775 intron variant T/G snv 0.19 0.010 < 0.001 1 2016 2016
dbSNP: rs150634721
rs150634721
LOC105369944
1 1.000 0.040 12 102492363 intergenic variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1502844
rs1502844 		1 1.000 0.040 5 102523613 regulatory region variant C/T snv 0.66 0.800 1.000 2 2009 2011
dbSNP: rs9665626
rs9665626
SUFU
1 1.000 0.040 10 102540881 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs7907645
rs7907645 		2 1.000 0.040 10 102664043 downstream gene variant T/G snv 0.13 0.700 1.000 2 2017 2019
dbSNP: rs10883765
rs10883765
ARL3
1 1.000 0.040 10 102696929 intron variant T/C snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs4147157
rs4147157
WBP1L
1 1.000 0.040 10 102776603 intron variant G/A snv 8.9E-02 0.010 1.000 1 2020 2020
dbSNP: rs284854
rs284854
WBP1L
1 1.000 0.040 10 102814805 3 prime UTR variant T/A;G snv 0.010 1.000 1 2020 2020
dbSNP: rs12425434
rs12425434
PAH
1 1.000 0.040 12 102846289 intron variant C/T snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs11191419
rs11191419
BORCS7 ; BORCS7-ASMT
2 1.000 0.040 10 102852578 intron variant T/A snv 0.36 0.710 1.000 4 2014 2017
dbSNP: rs11191424
rs11191424
BORCS7-ASMT
1 1.000 0.040 10 102866129 intron variant G/A snv 0.36 0.700 1.000 2 2017 2019
dbSNP: rs7085104
rs7085104
AS3MT ; BORCS7-ASMT
2 1.000 0.040 10 102869116 intron variant A/G snv 0.35 0.800 1.000 2 2013 2019
dbSNP: rs12764899
rs12764899
AS3MT ; BORCS7-ASMT
4 1.000 0.040 10 102875346 intron variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs12244388
rs12244388
AS3MT ; BORCS7-ASMT
1 1.000 0.040 10 102880295 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10883795
rs10883795
AS3MT ; BORCS7-ASMT
1 1.000 0.040 10 102894820 intron variant T/C snv 0.30 0.700 1.000 1 2017 2017