Gene: PRPF40B ×
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: rs549662742
rs549662742
PRPF40B ; FAM186B
1 1.000 0.080 12 49601136 splice acceptor variant T/C snv 2.0E-05 0.700 1.000 1 2016 2016