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: rs1555688659
rs1555688659
CYB5A
1 1.000 18 74263476 missense variant T/A snv 0.800 1.000 3 1994 2012
dbSNP: rs1555691399
rs1555691399
CYB5A
1 1.000 18 74291795 stop gained C/T snv 0.700 0
dbSNP: rs794728010
rs794728010
CYB5A
1 1.000 18 74263479 splice acceptor variant T/C snv 0.700 0