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rs74315374

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315374(A;A)
Make rs74315374(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position169477212
GeneSLC19A2
is asnp
is mentioned by
dbSNPrs74315374
dbSNP (classic)rs74315374
ClinGenrs74315374
ebirs74315374
HLIrs74315374
Exacrs74315374
Gnomadrs74315374
Varsomers74315374
LitVarrs74315374
Maprs74315374
PheGenIrs74315374
Biobankrs74315374
1000 genomesrs74315374
hgdprs74315374
ensemblrs74315374
geneviewrs74315374
scholarrs74315374
googlers74315374
pharmgkbrs74315374
gwascentralrs74315374
openSNPrs74315374
23andMers74315374
SNPshotrs74315374
SNPdbers74315374
MSV3drs74315374
GWAS Ctlgrs74315374
Max Magnitude0
OMIM603941
Desc
Variant0004
Relatedalso
ClinVar
Risk rs74315374(A;A) rs74315374(C;C)
Alt rs74315374(A;A) rs74315374(C;C)
Reference Rs74315374(G;G)
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.169446450C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006322.3,