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: rs1136201
rs1136201
34 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 0.030 0.667 3 2010 2019
dbSNP: rs368094521
rs368094521
5 0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04 0.010 1.000 1 2009 2009
dbSNP: rs372811772
rs372811772
2 17 39708435 synonymous variant C/T snv 8.0E-06 2.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs749539903
rs749539903
9 0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06 0.010 1.000 1 2012 2012
dbSNP: rs752295912
rs752295912
6 0.925 0.080 17 39710398 missense variant C/T snv 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs977818812
rs977818812
3 1.000 0.040 17 39723608 missense variant A/T snv 0.010 1.000 1 2019 2019