Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906808
rs387906808
NCF4 ; NCF4-AS1
1.000 22 36867434 missense variant G/A;C;T snv 2.8E-05; 4.0E-06; 4.0E-06
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		0.700 1.000 1 2009 2009
dbSNP: rs869025585
rs869025585
NCF4 ; NCF4-AS1
22 36864943 frameshift variant -/AAGGAGGATC delins
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		0.700 1.000 1 2009 2009