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: rs763731052
rs763731052
1 1.000 0.080 3 133942628 missense variant G/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs776813259
rs776813259
2 0.925 0.080 3 133935781 stop gained G/A snv 3.6E-05 0.010 1.000 1 2016 2016