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rs121918332

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918332(A;T)
Make rs121918332(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position39394574
GeneSLC25A38
is asnp
is mentioned by
dbSNPrs121918332
dbSNP (classic)rs121918332
ClinGenrs121918332
ebirs121918332
HLIrs121918332
Exacrs121918332
Gnomadrs121918332
Varsomers121918332
LitVarrs121918332
Maprs121918332
PheGenIrs121918332
Biobankrs121918332
1000 genomesrs121918332
hgdprs121918332
ensemblrs121918332
geneviewrs121918332
scholarrs121918332
googlers121918332
pharmgkbrs121918332
gwascentralrs121918332
openSNPrs121918332
23andMers121918332
SNPshotrs121918332
SNPdbers121918332
MSV3drs121918332
GWAS Ctlgrs121918332
Max Magnitude0
OMIM610819
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918332(T;T)
Alt rs121918332(T;T)
Reference Rs121918332(A;A)
Significance Pathogenic
Disease Anemia
Variation info
Gene SLC25A38
CLNDBN Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Reversed 0
HGVS NC_000003.11:g.39436065A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001181.3,