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

rs28935484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28935484(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55021121
GeneALAS2
is asnp
is mentioned by
dbSNPrs28935484
ebirs28935484
HLIrs28935484
Exacrs28935484
Varsomers28935484
Maprs28935484
PheGenIrs28935484
hapmaprs28935484
1000 genomesrs28935484
hgdprs28935484
ensemblrs28935484
gopubmedrs28935484
geneviewrs28935484
scholarrs28935484
googlers28935484
pharmgkbrs28935484
gwascentralrs28935484
openSNPrs28935484
23andMers28935484
23andMe allrs28935484
SNP Nexus

SNPshotrs28935484
SNPdbers28935484
MSV3drs28935484
GWAS Ctlgrs28935484
Max Magnitude0
OMIM301300
DescANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY
Variant0007
Relatedalso


ClinVar
Risk rs28935484(T;T)
Alt rs28935484(T;T)
Reference rs28935484(A;A)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55047554T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011220.3,