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: rs2300747
rs2300747
3 0.882 0.200 1 116561593 intron variant A/G snv 0.19 0.820 1.000 6 2009 2018
dbSNP: rs1335532
rs1335532
1 1.000 0.080 1 116558335 intron variant A/G snv 0.28 0.810 1.000 5 2009 2018
dbSNP: rs6677309
rs6677309
1 1.000 0.080 1 116537544 intron variant A/C snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs12044852
rs12044852
2 0.925 0.120 1 116545157 intron variant C/A snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs1414273
rs1414273
1 1.000 0.080 1 116560027 non coding transcript exon variant C/T snv 0.15 0.27 0.010 1.000 1 2015 2015