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rs606231289

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs606231289(C;C)
Make rs606231289(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position3144599
GeneTRNT1
is asnp
is mentioned by
dbSNPrs606231289
ebirs606231289
HLIrs606231289
Exacrs606231289
Varsomers606231289
Maprs606231289
PheGenIrs606231289
hapmaprs606231289
1000 genomesrs606231289
hgdprs606231289
ensemblrs606231289
gopubmedrs606231289
geneviewrs606231289
scholarrs606231289
googlers606231289
pharmgkbrs606231289
gwascentralrs606231289
openSNPrs606231289
23andMers606231289
23andMe allrs606231289
SNP Nexus

SNPshotrs606231289
SNPdbers606231289
MSV3drs606231289
GWAS Ctlgrs606231289
Max Magnitude0
ClinVar
Risk rs606231289(C;C)
Alt rs606231289(C;C)
Reference rs606231289(T;T)
Significance Pathogenic
Disease Sideroblastic anemia with B-cell immunodeficiency
Variation info
Gene TRNT1
CLNDBN Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Reversed 0
HGVS NC_000003.11:g.3186283T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144949.4,