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: rs1057910
rs1057910
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs17708472
rs17708472
1 16 31094032 non coding transcript exon variant G/A snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs17847036
rs17847036
1 10 94941917 synonymous variant G/A snv 5.7E-04 2.4E-04 0.010 1.000 1 2011 2011
dbSNP: rs1799809
rs1799809
1 2 127418299 upstream gene variant G/A snv 0.52 0.010 < 0.001 1 2011 2011
dbSNP: rs4086116
rs4086116
1 10 94947445 intron variant C/T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs4653436
rs4653436
1 1 225807509 upstream gene variant G/A snv 0.26 0.010 < 0.001 1 2011 2011
dbSNP: rs9332127
rs9332127
1 10 94947714 intron variant G/C snv 4.6E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs9923231
rs9923231
6 0.851 0.200 16 31096368 upstream gene variant C/A;G;T snv 0.010 1.000 1 2011 2011