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rs370011798

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs370011798(C;C)
Make rs370011798(C;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position3146489
GeneTRNT1
is asnp
is mentioned by
dbSNPrs370011798
ebirs370011798
HLIrs370011798
Exacrs370011798
Varsomers370011798
Maprs370011798
PheGenIrs370011798
hapmaprs370011798
1000 genomesrs370011798
hgdprs370011798
ensemblrs370011798
gopubmedrs370011798
geneviewrs370011798
scholarrs370011798
googlers370011798
pharmgkbrs370011798
gwascentralrs370011798
openSNPrs370011798
23andMers370011798
23andMe allrs370011798
SNP Nexus

SNPshotrs370011798
SNPdbers370011798
MSV3drs370011798
GWAS Ctlgrs370011798
Max Magnitude0
ClinVar
Risk rs370011798(C;C)
Alt rs370011798(C;C)
Reference rs370011798(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.3188173T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144947.4,