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rs121918367

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918367(G;T)
Make rs121918367(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position50999214
GeneSLC11A2
is asnp
is mentioned by
dbSNPrs121918367
dbSNP (classic)rs121918367
ClinGenrs121918367
ebirs121918367
HLIrs121918367
Exacrs121918367
Gnomadrs121918367
Varsomers121918367
LitVarrs121918367
Maprs121918367
PheGenIrs121918367
Biobankrs121918367
1000 genomesrs121918367
hgdprs121918367
ensemblrs121918367
geneviewrs121918367
scholarrs121918367
googlers121918367
pharmgkbrs121918367
gwascentralrs121918367
openSNPrs121918367
23andMers121918367
SNPshotrs121918367
SNPdbers121918367
MSV3drs121918367
GWAS Ctlgrs121918367
Max Magnitude0
OMIM600523
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918367(A;A) rs121918367(T;T)
Alt rs121918367(A;A) rs121918367(T;T)
Reference Rs121918367(G;G)
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.51392997C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009646.5,