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rs148001159

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs148001159(C;C)
Make rs148001159(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position35860983
GeneIL7R, LOC105374724
is asnp
is mentioned by
dbSNPrs148001159
dbSNP (classic)rs148001159
ClinGenrs148001159
ebirs148001159
HLIrs148001159
Exacrs148001159
Gnomadrs148001159
Varsomers148001159
LitVarrs148001159
Maprs148001159
PheGenIrs148001159
Biobankrs148001159
1000 genomesrs148001159
hgdprs148001159
ensemblrs148001159
geneviewrs148001159
scholarrs148001159
googlers148001159
pharmgkbrs148001159
gwascentralrs148001159
openSNPrs148001159
23andMers148001159
SNPshotrs148001159
SNPdbers148001159
MSV3drs148001159
GWAS Ctlgrs148001159
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs148001159(C;C)
Alt rs148001159(C;C)
Reference Rs148001159(G;G)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency disease Severe Combined Immune Deficiency
Variation info
Gene IL7R
CLNDBN Severe combined immunodeficiency disease Severe Combined Immune Deficiency
Reversed 0
HGVS NC_000005.9:g.35861085G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000030059.1, RCV000397984.1,