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: rs6010620
rs6010620
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.900 0.952 21 2009 2020
dbSNP: rs2297440
rs2297440
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.820 1.000 5 2009 2018
dbSNP: rs2236507
rs2236507
2 1.000 0.040 20 63691653 intron variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs115303435
rs115303435
1 1.000 0.040 20 63694806 missense variant G/A snv 3.2E-03 1.1E-03 0.010 1.000 1 2018 2018
dbSNP: rs4809324
rs4809324
7 0.807 0.200 20 63686867 non coding transcript exon variant T/C snv 8.8E-02 0.800 1.000 1 2009 2009
dbSNP: rs6062302
rs6062302
4 0.882 0.040 20 63689615 synonymous variant T/C snv 0.74 0.81 0.010 1.000 1 2018 2018