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: rs147837176
rs147837176
8 0.776 0.080 5 1400949 missense variant T/C snv 3.1E-04 2.8E-04 0.010 1.000 1 2000 2000