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rs606231287

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231287(G;T)
Make rs606231287(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position3144671
GeneTRNT1
is asnp
is mentioned by
dbSNPrs606231287
ebirs606231287
HLIrs606231287
Exacrs606231287
Varsomers606231287
Maprs606231287
PheGenIrs606231287
hapmaprs606231287
1000 genomesrs606231287
hgdprs606231287
ensemblrs606231287
gopubmedrs606231287
geneviewrs606231287
scholarrs606231287
googlers606231287
pharmgkbrs606231287
gwascentralrs606231287
openSNPrs606231287
23andMers606231287
23andMe allrs606231287
SNP Nexus

SNPshotrs606231287
SNPdbers606231287
MSV3drs606231287
GWAS Ctlgrs606231287
Max Magnitude0
ClinVar
Risk rs606231287(T;T)
Alt rs606231287(T;T)
Reference rs606231287(G;G)
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.3186355G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000144946.3,