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rs368078167

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs368078167(C;G)
Make rs368078167(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position3147899
GeneTRNT1
is asnp
is mentioned by
dbSNPrs368078167
ebirs368078167
HLIrs368078167
Exacrs368078167
Varsomers368078167
Maprs368078167
PheGenIrs368078167
hapmaprs368078167
1000 genomesrs368078167
hgdprs368078167
ensemblrs368078167
gopubmedrs368078167
geneviewrs368078167
scholarrs368078167
googlers368078167
pharmgkbrs368078167
gwascentralrs368078167
openSNPrs368078167
23andMers368078167
23andMe allrs368078167
SNP Nexus

SNPshotrs368078167
SNPdbers368078167
MSV3drs368078167
GWAS Ctlgrs368078167
Max Magnitude0
ClinVar
Risk rs368078167(G;G)
Alt rs368078167(G;G)
Reference rs368078167(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.3189583C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000144948.4,