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rs137852299

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852299(A;A)
Make rs137852299(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55014757
GeneALAS2
is asnp
is mentioned by
dbSNPrs137852299
ebirs137852299
HLIrs137852299
Exacrs137852299
Varsomers137852299
Maprs137852299
PheGenIrs137852299
hapmaprs137852299
1000 genomesrs137852299
hgdprs137852299
ensemblrs137852299
gopubmedrs137852299
geneviewrs137852299
scholarrs137852299
googlers137852299
pharmgkbrs137852299
gwascentralrs137852299
openSNPrs137852299
23andMers137852299
23andMe allrs137852299
SNP Nexus

SNPshotrs137852299
SNPdbers137852299
MSV3drs137852299
GWAS Ctlgrs137852299
Max Magnitude0
OMIM301300
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852299(A;A)
Alt rs137852299(A;A)
Reference rs137852299(T;T)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55041190A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011214.2,