Have questions? Visit https://www.reddit.com/r/SNPedia

rs796065031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGCT;AAGCT) 0 common in clinvar
Make rs796065031(-;-)
Make rs796065031(-;AAGCT)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position183563437
GeneNCF2
is asnp
is mentioned by
dbSNPrs796065031
dbSNP (classic)rs796065031
ClinGenrs796065031
ebirs796065031
HLIrs796065031
Exacrs796065031
Gnomadrs796065031
Varsomers796065031
LitVarrs796065031
Maprs796065031
PheGenIrs796065031
Biobankrs796065031
1000 genomesrs796065031
hgdprs796065031
ensemblrs796065031
geneviewrs796065031
scholarrs796065031
googlers796065031
pharmgkbrs796065031
gwascentralrs796065031
openSNPrs796065031
23andMers796065031
SNPshotrs796065031
SNPdbers796065031
MSV3drs796065031
GWAS Ctlgrs796065031
Max Magnitude0
ClinVar
Risk rs796065031(-;-)
Alt rs796065031(-;-)
Reference Rs796065031(AAGCT;AAGCT)
Significance Pathogenic
Disease Chronic granulomatous disease
Variation info
Gene NCF2
CLNDBN Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
Reversed 1
HGVS NC_000001.10:g.183532572_183532576delAGCTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000002330.3,