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Rs104893893

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893893(A;A)
Make rs104893893(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position35873593
GeneIL7R
is asnp
is mentioned by
dbSNPrs104893893
PheGenIrs104893893
nextbiors104893893
hapmaprs104893893
1000 genomesrs104893893
hgdprs104893893
ensemblrs104893893
gopubmedrs104893893
geneviewrs104893893
scholarrs104893893
googlers104893893
pharmgkbrs104893893
gwascentralrs104893893
openSNPrs104893893
23andMers104893893
23andMe allrs104893893
SNP Nexus

SNPshotrs104893893
SNPdbers104893893
MSV3drs104893893
Max Magnitude0
OMIM146661
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104893893(A;A)
Alt rs104893893(A;A)
Reference rs104893893(G;G)
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.35873695G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015967.24,