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: rs974389711
rs974389711
1 1.000 0.040 11 116836210 synonymous variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs9349379
rs9349379
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs920435389
rs920435389
3 1.000 0.040 5 177091064 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs886916693
rs886916693
1 1.000 0.040 2 8806360 missense variant T/C snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs879254840
rs879254840
5 0.827 0.120 19 11113322 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs8450
rs8450
2 1.000 0.040 1 153947810 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs7744
rs7744
5 0.827 0.160 3 38142530 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs773641005
rs773641005
14 0.742 0.240 16 58723829 missense variant T/C snv 0.010 < 0.001 1 2001 2001
dbSNP: rs769455
rs769455
8 0.827 0.120 19 44908783 missense variant C/T snv 1.4E-03 6.9E-03 0.010 1.000 1 1995 1995
dbSNP: rs764929617
rs764929617
8 0.776 0.200 19 44907799 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2019 2019
dbSNP: rs717620
rs717620
10 0.763 0.240 10 99782821 5 prime UTR variant C/T snv 0.17 0.15 0.010 1.000 1 2018 2018
dbSNP: rs694539
rs694539
10 0.776 0.200 11 114262697 intron variant C/T snv 0.21 0.010 < 0.001 1 2016 2016
dbSNP: rs679899
rs679899
7 0.925 0.080 2 21028042 missense variant G/A snv 0.49 0.39 0.010 1.000 1 2017 2017
dbSNP: rs676210
rs676210
12 0.925 0.120 2 21008652 missense variant G/A;T snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 1.000 1 2018 2018
dbSNP: rs632793
rs632793
3 0.882 0.120 1 11850620 upstream gene variant A/G snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs6078
rs6078
3 0.882 0.120 15 58541794 missense variant G/A;T snv 7.1E-02; 8.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs573658040
rs573658040
9 0.790 0.200 19 44908705 missense variant C/G;T snv 6.3E-06 0.010 1.000 1 1995 1995
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 0.500 2 2001 2003
dbSNP: rs4986938
rs4986938
35 0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33 0.010 < 0.001 1 2010 2010
dbSNP: rs498005
rs498005
5 0.851 0.160 15 73327969 intron variant C/T snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs4973768
rs4973768
7 0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs4757268
rs4757268
6 0.827 0.120 11 14789216 synonymous variant A/G snv 0.63 0.64 0.010 1.000 1 2003 2003