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: rs1770
rs1770
1 1.000 0.120 6 32660056 splice region variant A/G snv 0.31 0.710 1.000 1 2019 2019
dbSNP: rs281862059
rs281862059
1 1.000 0.120 6 32665011 missense variant C/T snv 5.0E-06 7.6E-06 0.010 1.000 1 2007 2007
dbSNP: rs9273643
rs9273643
3 0.925 0.120 6 32661407 missense variant A/G snv 0.010 1.000 1 2000 2000