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rs137852306

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852306(A;G)
Make rs137852306(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55009242
GeneALAS2
is asnp
is mentioned by
dbSNPrs137852306
ebirs137852306
HLIrs137852306
Exacrs137852306
Varsomers137852306
Maprs137852306
PheGenIrs137852306
hapmaprs137852306
1000 genomesrs137852306
hgdprs137852306
ensemblrs137852306
gopubmedrs137852306
geneviewrs137852306
scholarrs137852306
googlers137852306
pharmgkbrs137852306
gwascentralrs137852306
openSNPrs137852306
23andMers137852306
23andMe allrs137852306
SNP Nexus

SNPshotrs137852306
SNPdbers137852306
MSV3drs137852306
GWAS Ctlgrs137852306
Merged fromRs28935189
Max Magnitude0
OMIM301300
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852306(G;G)
Alt rs137852306(G;G)
Reference rs137852306(A;A)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55035675T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011222.4,