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: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2010 2010
dbSNP: rs1059234
rs1059234
10 0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13 0.010 1.000 1 2013 2013
dbSNP: rs1074182
rs1074182
2 1.000 0.080 16 53437445 intron variant T/G snv 0.55 0.010 1.000 1 2009 2009
dbSNP: rs10748
rs10748
2 1.000 0.080 16 53470809 synonymous variant T/C snv 0.44 0.55 0.010 1.000 1 2009 2009
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 2012 2012
dbSNP: rs11801299
rs11801299
9 0.807 0.200 1 204559956 downstream gene variant G/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121912431
rs121912431
11 0.742 0.160 21 31663829 missense variant G/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2012 2012
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1290923018
rs1290923018
5 0.851 0.160 11 65570699 missense variant G/A snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1380576
rs1380576
10 0.763 0.240 1 204519150 intron variant G/C snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs1448674651
rs1448674651
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2016 2016
dbSNP: rs2270744
rs2270744
3 1.000 0.080 17 8490582 intron variant G/C snv 0.36 0.35 0.010 1.000 1 2016 2016
dbSNP: rs34743033
rs34743033
8 0.776 0.200 18 657657 5 prime UTR variant GGCCTGCCTCCGTCCCGCCGCGCCACTTGGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCCC/CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG;CGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCGCCGCGCCACTTCGCCTGCCTCCGTCCCG delins 0.010 1.000 1 2016 2016
dbSNP: rs368087026
rs368087026
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs427686
rs427686
RB1
1 1.000 0.080 13 48384180 intron variant C/T snv 0.77 0.010 1.000 1 2016 2016
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2017 2017
dbSNP: rs55819519
rs55819519
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2014 2014
dbSNP: rs70991108
rs70991108
6 0.807 0.280 5 80654344 intron variant -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT ins 0.51 0.010 1.000 1 2012 2012
dbSNP: rs759338099
rs759338099
2 0.925 0.160 7 92833212 missense variant G/C snv 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs769412
rs769412
6 0.851 0.200 12 68839435 synonymous variant A/G snv 5.5E-02 7.5E-02 0.010 1.000 1 2016 2016