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rs387907316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907316(C;T)
Make rs387907316(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position44981932
GeneSTK4
is asnp
is mentioned by
dbSNPrs387907316
ebirs387907316
HLIrs387907316
Exacrs387907316
Varsomers387907316
Maprs387907316
PheGenIrs387907316
hapmaprs387907316
1000 genomesrs387907316
hgdprs387907316
ensemblrs387907316
gopubmedrs387907316
geneviewrs387907316
scholarrs387907316
googlers387907316
pharmgkbrs387907316
gwascentralrs387907316
openSNPrs387907316
23andMers387907316
23andMe allrs387907316
SNP Nexus

SNPshotrs387907316
SNPdbers387907316
MSV3drs387907316
GWAS Ctlgrs387907316
Max Magnitude0
ClinVar
Risk rs387907316(T;T)
Alt rs387907316(T;T)
Reference rs387907316(C;C)
Significance Pathogenic
Disease T-cell immunodeficiency
Variation info
Gene STK4
CLNDBN T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
Reversed 0
HGVS NC_000020.10:g.43610573C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030863.2,