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rs398122383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398122383(A;T)
Make rs398122383(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position198718267
GenePTPRC
is asnp
is mentioned by
dbSNPrs398122383
ebirs398122383
HLIrs398122383
Exacrs398122383
Varsomers398122383
Maprs398122383
PheGenIrs398122383
hapmaprs398122383
1000 genomesrs398122383
hgdprs398122383
ensemblrs398122383
gopubmedrs398122383
geneviewrs398122383
scholarrs398122383
googlers398122383
pharmgkbrs398122383
gwascentralrs398122383
openSNPrs398122383
23andMers398122383
23andMe allrs398122383
SNP Nexus

SNPshotrs398122383
SNPdbers398122383
MSV3drs398122383
GWAS Ctlgrs398122383
Max Magnitude0
ClinVar
Risk rs398122383(G,T;G,T)
Alt rs398122383(G,T;G,T)
Reference rs398122383(A;A)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene PTPRC
CLNDBN Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
Reversed 0
HGVS NC_000001.10:g.198687396A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054517.25,