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: rs200548390
rs200548390
BAZ1B
1 1.000 0.040 7 73478187 missense variant T/C snv 3.3E-04 3.5E-05 0.700 1.000 1 2018 2018