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rs121918366

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918366(C;T)
Make rs121918366(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position50992291
GeneSLC11A2
is asnp
is mentioned by
dbSNPrs121918366
dbSNP (classic)rs121918366
ClinGenrs121918366
ebirs121918366
HLIrs121918366
Exacrs121918366
Gnomadrs121918366
Varsomers121918366
LitVarrs121918366
Maprs121918366
PheGenIrs121918366
Biobankrs121918366
1000 genomesrs121918366
hgdprs121918366
ensemblrs121918366
geneviewrs121918366
scholarrs121918366
googlers121918366
pharmgkbrs121918366
gwascentralrs121918366
openSNPrs121918366
23andMers121918366
SNPshotrs121918366
SNPdbers121918366
MSV3drs121918366
GWAS Ctlgrs121918366
Max Magnitude0
OMIM600523
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918366(T;T)
Alt rs121918366(T;T)
Reference Rs121918366(C;C)
Significance Pathogenic
Disease Hypochromic microcytic anemia with iron overload
Variation info
Gene SLC11A2
CLNDBN Hypochromic microcytic anemia with iron overload
Reversed 1
HGVS NC_000012.11:g.51386074G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009644.3,