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rs869312029

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 carrier of one allele for a sideroblastic anemia disorder
(G;G) 0 common/normal


Make rs869312029(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position39391440
GeneSLC25A38
is asnp
is mentioned by
dbSNPrs869312029
ebirs869312029
HLIrs869312029
Exacrs869312029
Varsomers869312029
Maprs869312029
PheGenIrs869312029
hapmaprs869312029
1000 genomesrs869312029
hgdprs869312029
ensemblrs869312029
gopubmedrs869312029
geneviewrs869312029
scholarrs869312029
googlers869312029
pharmgkbrs869312029
gwascentralrs869312029
openSNPrs869312029
23andMers869312029
23andMe allrs869312029
SNP Nexus

SNPshotrs869312029
SNPdbers869312029
MSV3drs869312029
GWAS Ctlgrs869312029
Max Magnitude3
aka c.277-1G>A

reported in ClinVar as pathogenic for anemia, sideroblastic, pyridoxine-refractory (an autosomal recessive condition)

ClinVar
Risk rs869312029(A;A)
Alt rs869312029(A;A)
Reference rs869312029(G;G)
Significance Pathogenic
Disease Anemia
Variation info
Gene SLC25A38
CLNDBN Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Reversed 0
HGVS NC_000003.11:g.39432931G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001180.3,