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rs137852303

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852303(A;C)
Make rs137852303(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55017594
GeneALAS2
is asnp
is mentioned by
dbSNPrs137852303
ebirs137852303
HLIrs137852303
Exacrs137852303
Varsomers137852303
Maprs137852303
PheGenIrs137852303
hapmaprs137852303
1000 genomesrs137852303
hgdprs137852303
ensemblrs137852303
gopubmedrs137852303
geneviewrs137852303
scholarrs137852303
googlers137852303
pharmgkbrs137852303
gwascentralrs137852303
openSNPrs137852303
23andMers137852303
23andMe allrs137852303
SNP Nexus

SNPshotrs137852303
SNPdbers137852303
MSV3drs137852303
GWAS Ctlgrs137852303
Max Magnitude0
OMIM301300
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852303(C;C)
Alt rs137852303(C;C)
Reference rs137852303(A;A)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55044027T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011218.5,