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rs137852310

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852310(C;C)
Make rs137852310(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55021095
GeneALAS2
is asnp
is mentioned by
dbSNPrs137852310
ebirs137852310
HLIrs137852310
Exacrs137852310
Varsomers137852310
Maprs137852310
PheGenIrs137852310
hapmaprs137852310
1000 genomesrs137852310
hgdprs137852310
ensemblrs137852310
gopubmedrs137852310
geneviewrs137852310
scholarrs137852310
googlers137852310
pharmgkbrs137852310
gwascentralrs137852310
openSNPrs137852310
23andMers137852310
23andMe allrs137852310
SNP Nexus

SNPshotrs137852310
SNPdbers137852310
MSV3drs137852310
GWAS Ctlgrs137852310
Max Magnitude0
OMIM301300
Desc
Variant0017
Relatedalso
ClinVar
Risk rs137852310(C;C)
Alt rs137852310(C;C)
Reference rs137852310(T;T)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55047528A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011230.3,