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: rs6921438
rs6921438
10 0.776 0.360 6 43957870 intergenic variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs713041
rs713041
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.010 1.000 1 2019 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs765545512
rs765545512
HFE
6 0.827 0.240 6 26093226 missense variant G/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs770572030
rs770572030
5 0.827 0.160 18 49581427 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs772346653
rs772346653
VIP
1 1.000 0.120 6 152752206 missense variant T/C snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs7756992
rs7756992
12 0.827 0.240 6 20679478 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs779099001
rs779099001
1 1.000 0.120 12 867971 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs8192763
rs8192763
1 1.000 0.120 13 75605034 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs954226380
rs954226380
1 1.000 0.120 12 49054970 missense variant G/A snv 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs9543990
rs9543990
1 1.000 0.120 13 75598298 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 1.000 8 2003 2020
dbSNP: rs748352475
rs748352475
2 0.925 0.160 6 43777546 missense variant C/G snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.040 0.750 4 2003 2013
dbSNP: rs1373054855
rs1373054855
1 1.000 0.120 17 64370017 missense variant A/G snv 1.4E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs745738344
rs745738344
TNF
28 0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs140421861
rs140421861
ALB
1 1.000 0.120 4 73413512 synonymous variant C/T snv 1.1E-04 1.1E-04 0.010 1.000 1 2009 2009
dbSNP: rs200903070
rs200903070
1 1.000 0.120 7 134448044 missense variant G/A snv 6.4E-05 1.1E-04 0.010 1.000 1 2003 2003
dbSNP: rs184340784
rs184340784
2 0.925 0.160 1 4529823 intergenic variant C/T snv 6.1E-04 0.700 1.000 1 2019 2019
dbSNP: rs142610219
rs142610219
1 1.000 0.120 8 115906039 intergenic variant A/T snv 2.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs200295620
rs200295620
2 0.925 0.160 3 168172398 intergenic variant T/-;TT delins 5.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2017 2017
dbSNP: rs148995025
rs148995025
1 1.000 0.120 5 7085094 intron variant A/G snv 8.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs142293996
rs142293996
NVL
1 1.000 0.120 1 224260357 intron variant C/A snv 1.1E-02 0.010 1.000 1 2019 2019