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: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 1.000 2 2018 2018
dbSNP: rs1256046734
rs1256046734
12 0.763 0.280 1 65621409 missense variant A/G snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2501432
rs2501432
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs274609
rs274609
1 1.000 0.080 1 74504631 intron variant A/G snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs324419
rs324419
3 0.925 0.120 1 46406314 stop gained T/A;C snv 0.87 0.010 1.000 1 2010 2010
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2010 2010
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2015 2015
dbSNP: rs873978
rs873978
1 1.000 0.080 1 46408231 intron variant C/T snv 5.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs879761216
rs879761216
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2015 2015
dbSNP: rs2943650
rs2943650
6 0.827 0.120 2 226241205 intergenic variant C/T snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.030 1.000 3 2009 2018
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2009 2016
dbSNP: rs1010553
rs1010553
2 1.000 0.080 3 52506757 synonymous variant T/C snv 0.53 0.59 0.010 1.000 1 2019 2019
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2535633
rs2535633
4 1.000 0.080 3 52825614 intron variant C/G snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 < 0.001 1 2005 2005
dbSNP: rs149106723
rs149106723
NMU
1 1.000 0.080 4 55599178 missense variant G/A snv 1.6E-05 4.2E-05 0.020 1.000 2 2006 2009
dbSNP: rs12500837
rs12500837
NMU
1 1.000 0.080 4 55627872 intron variant T/C snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1996023
rs1996023
3 0.925 0.120 4 45162620 intergenic variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs6827359
rs6827359
NMU
1 1.000 0.080 4 55627773 intron variant T/C snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs6857715
rs6857715
5 0.827 0.160 4 155208030 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs9999653
rs9999653
NMU
1 1.000 0.080 4 55632082 intron variant C/T snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs6232
rs6232
2 0.925 0.080 5 96416081 missense variant T/C snv 3.9E-02 3.2E-02 0.020 1.000 2 2014 2017
dbSNP: rs4704397
rs4704397
13 0.807 0.200 5 77222617 intron variant G/A snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs6234
rs6234
8 0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24 0.010 1.000 1 2017 2017