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rs137852308

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852308(G;T)
Make rs137852308(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55021215
GeneALAS2
is asnp
is mentioned by
dbSNPrs137852308
ebirs137852308
HLIrs137852308
Exacrs137852308
Varsomers137852308
Maprs137852308
PheGenIrs137852308
hapmaprs137852308
1000 genomesrs137852308
hgdprs137852308
ensemblrs137852308
gopubmedrs137852308
geneviewrs137852308
scholarrs137852308
googlers137852308
pharmgkbrs137852308
gwascentralrs137852308
openSNPrs137852308
23andMers137852308
23andMe allrs137852308
SNP Nexus

SNPshotrs137852308
SNPdbers137852308
MSV3drs137852308
GWAS Ctlgrs137852308
Merged fromRs28935190
Max Magnitude0
OMIM301300
Desc
Variant0011
Relatedalso
OMIM301300
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137852308(A,T;A,T)
Alt rs137852308(A,T;A,T)
Reference rs137852308(G;G)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55047648C>A; NC_000023.10:g.55047648C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011224.5, RCV000011225.4,