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: rs80356682
rs80356682
7 0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04 0.040 1.000 4 1997 2005
dbSNP: rs121912482
rs121912482
2 0.925 0.080 1 209633070 missense variant C/T snv 7.0E-06 0.010 1.000 1 1998 1998