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rs193922645

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922645(G;T)
Make rs193922645(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position35873586
GeneIL7R
is asnp
is mentioned by
dbSNPrs193922645
ebirs193922645
HLIrs193922645
Exacrs193922645
Varsomers193922645
Maprs193922645
PheGenIrs193922645
hapmaprs193922645
1000 genomesrs193922645
hgdprs193922645
ensemblrs193922645
gopubmedrs193922645
geneviewrs193922645
scholarrs193922645
googlers193922645
pharmgkbrs193922645
gwascentralrs193922645
openSNPrs193922645
23andMers193922645
23andMe allrs193922645
SNP Nexus

SNPshotrs193922645
SNPdbers193922645
MSV3drs193922645
GWAS Ctlgrs193922645
Max Magnitude0
ClinVar
Risk rs193922645(T;T)
Alt rs193922645(T;T)
Reference rs193922645(G;G)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency disease
Variation info
Gene IL7R
CLNDBN Severe combined immunodeficiency disease
Reversed 0
HGVS NC_000005.9:g.35873688G>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030065.1,


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