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: rs267606861
rs267606861
HDC
1 1.000 0.120 15 50252520 stop gained C/T snv 0.710 1.000 1 2012 2012
dbSNP: rs61752115
rs61752115
7 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.020 1.000 2 1999 2005
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2006 2015
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2006 2015
dbSNP: rs1013940
rs1013940
6 0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs17561
rs17561
23 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 0.010 < 0.001 1 2015 2015
dbSNP: rs1800044
rs1800044
8 0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03 0.010 1.000 1 1996 1996
dbSNP: rs1805404
rs1805404
3 0.882 0.200 1 226402257 missense variant G/A;C snv 0.22; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2032892
rs2032892
1 1.000 0.120 5 36676981 missense variant G/C snv 2.5E-02 1.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs2289664
rs2289664
2 0.925 0.120 18 27952340 missense variant T/C snv 2.5E-02 2.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs28365054
rs28365054
1 1.000 0.120 14 89963514 missense variant G/A;C snv 3.9E-02; 6.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs28914832
rs28914832
3 0.925 0.120 17 30211356 missense variant T/C;G snv 7.4E-04 0.010 1.000 1 2013 2013
dbSNP: rs315952
rs315952
10 0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31 0.010 < 0.001 1 2015 2015
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2000 2000
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 < 0.001 1 2015 2015
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs10846381
rs10846381
1 1.000 0.120 12 16599165 non coding transcript exon variant A/T snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 0.500 2 2010 2016
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2004 2004
dbSNP: rs2228079
rs2228079
4 0.882 0.160 1 203129147 synonymous variant T/G snv 0.31 0.26 0.010 1.000 1 2015 2015
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs5751876
rs5751876
16 0.742 0.320 22 24441333 synonymous variant T/C snv 0.54 0.52 0.010 1.000 1 2015 2015
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 < 0.001 1 2017 2017
dbSNP: rs779610480
rs779610480
1 1.000 0.120 13 83880800 synonymous variant G/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs518147
rs518147
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.010 < 0.001 1 2012 2012