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rs74315373

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315373(C;T)
Make rs74315373(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position169477478
GeneSLC19A2
is asnp
is mentioned by
dbSNPrs74315373
ebirs74315373
HLIrs74315373
Exacrs74315373
Varsomers74315373
Maprs74315373
PheGenIrs74315373
hapmaprs74315373
1000 genomesrs74315373
hgdprs74315373
ensemblrs74315373
gopubmedrs74315373
geneviewrs74315373
scholarrs74315373
googlers74315373
pharmgkbrs74315373
gwascentralrs74315373
openSNPrs74315373
23andMers74315373
23andMe allrs74315373
SNP Nexus

SNPshotrs74315373
SNPdbers74315373
MSV3drs74315373
GWAS Ctlgrs74315373
Max Magnitude0
OMIM603941
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315373(T;T)
Alt rs74315373(T;T)
Reference rs74315373(C;C)
Significance Pathogenic
Disease Megaloblastic anemia
Variation info
Gene SLC19A2
CLNDBN Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Reversed 1
HGVS NC_000001.10:g.169446716G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006319.2,