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: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.040 1.000 4 2012 2019
dbSNP: rs3212986
rs3212986
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.040 1.000 4 2014 2019
dbSNP: rs735482
rs735482
16 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 0.040 1.000 4 2011 2016
dbSNP: rs2298881
rs2298881
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.030 1.000 3 2011 2014
dbSNP: rs3212948
rs3212948
10 0.776 0.160 19 45421104 intron variant G/C snv 0.53 0.020 0.500 2 2007 2014
dbSNP: rs3212961
rs3212961
7 0.827 0.200 19 45419065 intron variant G/A;T snv 1.9E-04; 0.20 0.020 1.000 2 2011 2014
dbSNP: rs1046282
rs1046282
10 0.776 0.160 19 45407414 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1362623672
rs1362623672
4 0.851 0.080 19 45421317 missense variant G/C snv 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs3212964
rs3212964
4 0.851 0.120 19 45417538 intron variant C/T snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs3212980
rs3212980
3 0.882 0.080 19 45413183 intron variant T/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs62109563
rs62109563
3 0.882 0.080 19 45410788 intron variant T/C snv 7.9E-02 0.010 1.000 1 2016 2016