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rs121918330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918330(C;T)
Make rs121918330(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position39391513
GeneSLC25A38
is asnp
is mentioned by
dbSNPrs121918330
ebirs121918330
HLIrs121918330
Exacrs121918330
Varsomers121918330
Maprs121918330
PheGenIrs121918330
hapmaprs121918330
1000 genomesrs121918330
hgdprs121918330
ensemblrs121918330
gopubmedrs121918330
geneviewrs121918330
scholarrs121918330
googlers121918330
pharmgkbrs121918330
gwascentralrs121918330
openSNPrs121918330
23andMers121918330
23andMe allrs121918330
SNP Nexus

SNPshotrs121918330
SNPdbers121918330
MSV3drs121918330
GWAS Ctlgrs121918330
Max Magnitude0
OMIM610819
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918330(T;T)
Alt rs121918330(T;T)
Reference rs121918330(C;C)
Significance Pathogenic
Disease Anemia
Variation info
Gene SLC25A38
CLNDBN Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Reversed 0
HGVS NC_000003.11:g.39433004C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001177.3,