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: rs145360423
rs145360423
NCF1
3 0.925 0.120 7 74783529 stop gained G/A snv 6.9E-04 5.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs387906808
rs387906808
NCF4 ; NCF4-AS1
2 1.000 22 36867434 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 4.0E-06 0.700 1.000 1 2009 2009