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rs193922647

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922647(A;C)
Make rs193922647(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position35875988
GeneIL7R
is asnp
is mentioned by
dbSNPrs193922647
ebirs193922647
HLIrs193922647
Exacrs193922647
Varsomers193922647
Maprs193922647
PheGenIrs193922647
hapmaprs193922647
1000 genomesrs193922647
hgdprs193922647
ensemblrs193922647
gopubmedrs193922647
geneviewrs193922647
scholarrs193922647
googlers193922647
pharmgkbrs193922647
gwascentralrs193922647
openSNPrs193922647
23andMers193922647
23andMe allrs193922647
SNP Nexus

SNPshotrs193922647
SNPdbers193922647
MSV3drs193922647
GWAS Ctlgrs193922647
Max Magnitude0
ClinVar
Risk rs193922647(C;C)
Alt rs193922647(C;C)
Reference rs193922647(A;A)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency disease
Variation info
Gene IL7R
CLNDBN Severe combined immunodeficiency disease
Reversed 0
HGVS NC_000005.9:g.35876090A>C
CLNSRC ClinVar LabCorp
CLNACC RCV000030067.1,