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rs119103270

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103270(A;A)
Make rs119103270(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position74777319
GeneNCF1
is asnp
is mentioned by
dbSNPrs119103270
ebirs119103270
HLIrs119103270
Exacrs119103270
Varsomers119103270
Maprs119103270
PheGenIrs119103270
hapmaprs119103270
1000 genomesrs119103270
hgdprs119103270
ensemblrs119103270
gopubmedrs119103270
geneviewrs119103270
scholarrs119103270
googlers119103270
pharmgkbrs119103270
gwascentralrs119103270
openSNPrs119103270
23andMers119103270
23andMe allrs119103270
SNP Nexus

SNPshotrs119103270
SNPdbers119103270
MSV3drs119103270
GWAS Ctlgrs119103270
Max Magnitude0
OMIM608512
Desc
Variant0003
Relatedalso
ClinVar
Risk rs119103270(A;A)
Alt rs119103270(A;A)
Reference rs119103270(G;G)
Significance Pathogenic
Disease Chronic granulomatous disease
Variation info
Gene NCF1
CLNDBN Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1
Reversed 0
HGVS NC_000007.13:g.74191665G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002339.4,