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: rs147750704
rs147750704
3 0.925 0.080 17 70175316 missense variant G/A snv 1.6E-04 7.0E-05 0.020 1.000 2 2005 2009
dbSNP: rs786205817
rs786205817
1 1.000 0.080 17 70175935 missense variant A/T snv 0.010 1.000 1 2013 2013