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: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs11030096
rs11030096
3 0.925 0.160 11 27643996 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2013 2013
dbSNP: rs2251214
rs2251214
7 0.827 0.040 12 79430071 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2952621
rs2952621
4 0.882 0.080 2 129240870 downstream gene variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs3495
rs3495
3 0.925 0.160 3 165773193 3 prime UTR variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs702764
rs702764
4 0.925 0.120 8 53229597 synonymous variant T/C;G snv 0.17; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs751416416
rs751416416
5 0.882 0.120 8 53250920 missense variant C/A;T snv 8.3E-06; 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs769540300
rs769540300
8 0.851 0.200 6 154091047 missense variant G/A snv 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs772527880
rs772527880
1 2 227531108 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs774847933
rs774847933
5 0.882 0.200 22 19962797 missense variant A/G snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs796065354
rs796065354
9 0.882 0.080 6 151944320 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs75012854
rs75012854
5 0.882 0.200 22 19962641 missense variant A/G snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs764987358
rs764987358
2 1.000 0.160 8 107347040 missense variant C/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1212415280
rs1212415280
2 6 43771130 missense variant G/T snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs17228602
rs17228602
2 7 100890786 3 prime UTR variant C/T snv 1.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs2377339
rs2377339
2 2 105840835 intron variant A/G snv 4.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs16918875
rs16918875
1 8 53229594 synonymous variant G/A snv 4.3E-02 7.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs1409568
rs1409568
2 1.000 0.040 10 118871273 intron variant T/C snv 8.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs17228616
rs17228616
3 1.000 0.080 7 100890100 3 prime UTR variant G/T snv 9.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs17664708
rs17664708
2 1.000 0.080 8 32579499 intron variant C/T snv 1.0E-01 0.010 1.000 1 2012 2012
dbSNP: rs12043259
rs12043259
2 1 204858913 intron variant C/G snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.090 1.000 9 2004 2019