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rs193922643

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Make rs193922643(CG;TA)
Make rs193922643(TA;TA)
ReferenceGRCh38 38.1/141
Chromosome5
Position35873558
GeneIL7R
is asnp
is mentioned by
dbSNPrs193922643
ebirs193922643
HLIrs193922643
Exacrs193922643
Varsomers193922643
Maprs193922643
PheGenIrs193922643
hapmaprs193922643
1000 genomesrs193922643
hgdprs193922643
ensemblrs193922643
gopubmedrs193922643
geneviewrs193922643
scholarrs193922643
googlers193922643
pharmgkbrs193922643
gwascentralrs193922643
openSNPrs193922643
23andMers193922643
23andMe allrs193922643
SNP Nexus

SNPshotrs193922643
SNPdbers193922643
MSV3drs193922643
GWAS Ctlgrs193922643
Max Magnitude0
ClinVar
Risk rs193922643(TA;TA)
Alt rs193922643(TA;TA)
Reference rs193922643(CG;CG)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency disease
Variation info
Gene IL7R
CLNDBN Severe combined immunodeficiency disease
Reversed 0
HGVS NC_000005.9:g.35873660_35873661delCGinsTA
CLNSRC ClinVar LabCorp
CLNACC RCV000030063.1,