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rs193922641

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922641(A;A)
Make rs193922641(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position35867437
GeneIL7R
is asnp
is mentioned by
dbSNPrs193922641
ebirs193922641
HLIrs193922641
Exacrs193922641
Varsomers193922641
Maprs193922641
PheGenIrs193922641
hapmaprs193922641
1000 genomesrs193922641
hgdprs193922641
ensemblrs193922641
gopubmedrs193922641
geneviewrs193922641
scholarrs193922641
googlers193922641
pharmgkbrs193922641
gwascentralrs193922641
openSNPrs193922641
23andMers193922641
23andMe allrs193922641
SNP Nexus

SNPshotrs193922641
SNPdbers193922641
MSV3drs193922641
GWAS Ctlgrs193922641
Max Magnitude0
ClinVar
Risk rs193922641(A;A)
Alt rs193922641(A;A)
Reference rs193922641(G;G)
Significance Pathogenic
Disease Severe combined immunodeficiency disease
Variation info
Gene IL7R
CLNDBN Severe combined immunodeficiency disease
Reversed 0
HGVS NC_000005.9:g.35867539G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030061.1,


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[PMID 18403192] Genetically determined lymphopenia and autoimmune manifestations.

[PMID 18641513] Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.