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

rs119103269

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103269(A;A)
Make rs119103269(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position88643568
GeneCYBA
is asnp
is mentioned by
dbSNPrs119103269
dbSNP (classic)rs119103269
ClinGenrs119103269
ebirs119103269
HLIrs119103269
Exacrs119103269
Gnomadrs119103269
Varsomers119103269
LitVarrs119103269
Maprs119103269
PheGenIrs119103269
Biobankrs119103269
1000 genomesrs119103269
hgdprs119103269
ensemblrs119103269
geneviewrs119103269
scholarrs119103269
googlers119103269
pharmgkbrs119103269
gwascentralrs119103269
openSNPrs119103269
23andMers119103269
SNPshotrs119103269
SNPdbers119103269
MSV3drs119103269
GWAS Ctlgrs119103269
Max Magnitude0
OMIM608508
Desc
Variant0012
Relatedalso
ClinVar
Risk rs119103269(A;A)
Alt rs119103269(A;A)
Reference Rs119103269(G;G)
Significance Pathogenic
Disease Granulomatous disease
Variation info
Gene CYBA
CLNDBN Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Reversed 1
HGVS NC_000016.9:g.88709976C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002355.2,