Have questions? Visit https://www.reddit.com/r/SNPedia

rs606231291

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231291(-;-)
Make rs606231291(-;ATGT)
Make rs606231291(ATGT;ATGT)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position3147991
GeneTRNT1
is asnp
is mentioned by
dbSNPrs606231291
ebirs606231291
HLIrs606231291
Exacrs606231291
Varsomers606231291
Maprs606231291
PheGenIrs606231291
hapmaprs606231291
1000 genomesrs606231291
hgdprs606231291
ensemblrs606231291
gopubmedrs606231291
geneviewrs606231291
scholarrs606231291
googlers606231291
pharmgkbrs606231291
gwascentralrs606231291
openSNPrs606231291
23andMers606231291
23andMe allrs606231291
SNP Nexus

SNPshotrs606231291
SNPdbers606231291
MSV3drs606231291
GWAS Ctlgrs606231291
Max Magnitude0
ClinVar
Risk rs606231291(ATGT;ATGT)
Alt rs606231291(ATGT;ATGT)
Reference rs606231291(;)
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.3189675_3189676insATGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000144951.5,