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rs74315444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315444(A;A)
Make rs74315444(A;C)
ReferenceGRCh38 38.1/141
Chromosome21
Position33426974
GeneIFNGR2
is asnp
is mentioned by
dbSNPrs74315444
dbSNP (classic)rs74315444
ClinGenrs74315444
ebirs74315444
HLIrs74315444
Exacrs74315444
Gnomadrs74315444
Varsomers74315444
LitVarrs74315444
Maprs74315444
PheGenIrs74315444
Biobankrs74315444
1000 genomesrs74315444
hgdprs74315444
ensemblrs74315444
geneviewrs74315444
scholarrs74315444
googlers74315444
pharmgkbrs74315444
gwascentralrs74315444
openSNPrs74315444
23andMers74315444
SNPshotrs74315444
SNPdbers74315444
MSV3drs74315444
GWAS Ctlgrs74315444
Max Magnitude0
OMIM147569
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74315444(A;A)
Alt rs74315444(A;A)
Reference Rs74315444(C;C)
Significance Pathogenic
Disease Immunodeficiency 28
Variation info
Gene IFNGR2
CLNDBN Immunodeficiency 28
Reversed 0
HGVS NC_000021.8:g.34799281C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015848.27,