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rs869320719

From SNPedia

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Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs869320719(-;-)
Make rs869320719(-;CT)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position39391488
GeneSLC25A38
is asnp
is mentioned by
dbSNPrs869320719
ebirs869320719
HLIrs869320719
Exacrs869320719
Varsomers869320719
Maprs869320719
PheGenIrs869320719
hapmaprs869320719
1000 genomesrs869320719
hgdprs869320719
ensemblrs869320719
gopubmedrs869320719
geneviewrs869320719
scholarrs869320719
googlers869320719
pharmgkbrs869320719
gwascentralrs869320719
openSNPrs869320719
23andMers869320719
23andMe allrs869320719
SNP Nexus

SNPshotrs869320719
SNPdbers869320719
MSV3drs869320719
GWAS Ctlgrs869320719
Max Magnitude0
ClinVar
Risk rs869320719(;)
Alt rs869320719(;)
Reference rs869320719(CT;CT)
Significance Pathogenic
Disease Anemia
Variation info
Gene SLC25A38
CLNDBN Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Reversed 0
HGVS NC_000003.11:g.39432979_39432980delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001178.4,