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rs869312857

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869312857(-;-)
Make rs869312857(-;A)
Make rs869312857(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position35867445
GeneIL7R
is asnp
is mentioned by
dbSNPrs869312857
ebirs869312857
HLIrs869312857
Exacrs869312857
Varsomers869312857
Maprs869312857
PheGenIrs869312857
hapmaprs869312857
1000 genomesrs869312857
hgdprs869312857
ensemblrs869312857
gopubmedrs869312857
geneviewrs869312857
scholarrs869312857
googlers869312857
pharmgkbrs869312857
gwascentralrs869312857
openSNPrs869312857
23andMers869312857
23andMe allrs869312857
SNP Nexus

SNPshotrs869312857
SNPdbers869312857
MSV3drs869312857
GWAS Ctlgrs869312857
Max Magnitude0
ClinVar
Risk rs869312857(A;A)
Alt rs869312857(A;A)
Reference rs869312857(;)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene IL7R
CLNDBN Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
Reversed 0
HGVS NC_000005.9:g.35867547dupA
CLNSRC
CLNACC RCV000210421.1,