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rs121918365

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918365(C;C)
Make rs121918365(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position50992810
GeneSLC11A2
is asnp
is mentioned by
dbSNPrs121918365
dbSNP (classic)rs121918365
ClinGenrs121918365
ebirs121918365
HLIrs121918365
Exacrs121918365
Gnomadrs121918365
Varsomers121918365
LitVarrs121918365
Maprs121918365
PheGenIrs121918365
Biobankrs121918365
1000 genomesrs121918365
hgdprs121918365
ensemblrs121918365
geneviewrs121918365
scholarrs121918365
googlers121918365
pharmgkbrs121918365
gwascentralrs121918365
openSNPrs121918365
23andMers121918365
SNPshotrs121918365
SNPdbers121918365
MSV3drs121918365
GWAS Ctlgrs121918365
Max Magnitude0
OMIM600523
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918365(C;C)
Alt rs121918365(C;C)
Reference Rs121918365(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.51386593C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009642.2,