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rs606231290

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs606231290(C;T)
Make rs606231290(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position3140628
GeneTRNT1
is asnp
is mentioned by
dbSNPrs606231290
ebirs606231290
HLIrs606231290
Exacrs606231290
Varsomers606231290
Maprs606231290
PheGenIrs606231290
hapmaprs606231290
1000 genomesrs606231290
hgdprs606231290
ensemblrs606231290
gopubmedrs606231290
geneviewrs606231290
scholarrs606231290
googlers606231290
pharmgkbrs606231290
gwascentralrs606231290
openSNPrs606231290
23andMers606231290
23andMe allrs606231290
SNP Nexus

SNPshotrs606231290
SNPdbers606231290
MSV3drs606231290
GWAS Ctlgrs606231290
Max Magnitude0
ClinVar
Risk rs606231290(T;T)
Alt rs606231290(T;T)
Reference rs606231290(C;C)
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.3182312C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144950.4,