Have questions? Visit https://www.reddit.com/r/SNPedia

rs869312752

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312752(A;C)
Make rs869312752(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position95543952
GeneGLRX5
is asnp
is mentioned by
dbSNPrs869312752
ebirs869312752
HLIrs869312752
Exacrs869312752
Varsomers869312752
Maprs869312752
PheGenIrs869312752
hapmaprs869312752
1000 genomesrs869312752
hgdprs869312752
ensemblrs869312752
gopubmedrs869312752
geneviewrs869312752
scholarrs869312752
googlers869312752
pharmgkbrs869312752
gwascentralrs869312752
openSNPrs869312752
23andMers869312752
23andMe allrs869312752
SNP Nexus

SNPshotrs869312752
SNPdbers869312752
MSV3drs869312752
GWAS Ctlgrs869312752
Max Magnitude0
ClinVar
Risk rs869312752(C;C)
Alt rs869312752(C;C)
Reference rs869312752(A;A)
Significance Pathogenic
Disease Sideroblastic anemia 3
Variation info
Gene GLRX5
CLNDBN Sideroblastic anemia 3, pyridoxine-refractory
Reversed 0
HGVS NC_000014.8:g.96010289A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000210158.1,