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rs193922640

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs193922640(-;ATATATTTCA)
Make rs193922640(ATATATTTCA;ATATATTTCA)
ReferenceGRCh38 38.1/141
Chromosome5
Position35867364
GeneIL7R
is asnp
is mentioned by
dbSNPrs193922640
dbSNP (classic)rs193922640
ClinGenrs193922640
ebirs193922640
HLIrs193922640
Exacrs193922640
Gnomadrs193922640
Varsomers193922640
LitVarrs193922640
Maprs193922640
PheGenIrs193922640
Biobankrs193922640
1000 genomesrs193922640
hgdprs193922640
ensemblrs193922640
geneviewrs193922640
scholarrs193922640
googlers193922640
pharmgkbrs193922640
gwascentralrs193922640
openSNPrs193922640
23andMers193922640
SNPshotrs193922640
SNPdbers193922640
MSV3drs193922640
GWAS Ctlgrs193922640
Max Magnitude0
ClinVar
Risk rs193922640(ATATATTTCA;ATATATTTCA)
Alt rs193922640(ATATATTTCA;ATATATTTCA)
Reference Rs193922640(-;-)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency disease
Variation info
Gene IL7R
CLNDBN Severe combined immunodeficiency disease
Reversed 0
HGVS NC_000005.9:g.35867457_35867466dupATATATTTCA
CLNSRC ClinVar LabCorp
CLNACC RCV000030060.1,