Source: ALL
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: rs28941469
rs28941469
BEST1 ; LOC107984334
1 1.000 0.080 11 61957429 missense variant T/A snv 0.810 1.000 20 1998 2019