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rs765487627

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs765487627(C;C)
Make rs765487627(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position95544094
GeneGLRX5
is asnp
is mentioned by
dbSNPrs765487627
ebirs765487627
HLIrs765487627
Exacrs765487627
Varsomers765487627
Maprs765487627
PheGenIrs765487627
hapmaprs765487627
1000 genomesrs765487627
hgdprs765487627
ensemblrs765487627
gopubmedrs765487627
geneviewrs765487627
scholarrs765487627
googlers765487627
pharmgkbrs765487627
gwascentralrs765487627
openSNPrs765487627
23andMers765487627
23andMe allrs765487627
SNP Nexus

SNPshotrs765487627
SNPdbers765487627
MSV3drs765487627
GWAS Ctlgrs765487627
Max Magnitude0
ClinVar
Risk rs765487627(C;C)
Alt rs765487627(C;C)
Reference rs765487627(T;T)
Significance Pathogenic
Disease Sideroblastic anemia 3
Variation info
Gene GLRX5
CLNDBN Sideroblastic anemia 3, pyridoxine-refractory
Reversed 0
HGVS NC_000014.8:g.96010431T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000210075.1,