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: rs553749201
rs553749201
3 17 4933900 synonymous variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs6065
rs6065
6 0.851 0.280 17 4933086 missense variant C/T snv 9.8E-02 0.13 0.700 1.000 1 2012 2012