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rs137852309

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852309(C;G)
Make rs137852309(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55013516
GeneALAS2
is asnp
is mentioned by
dbSNPrs137852309
ebirs137852309
HLIrs137852309
Exacrs137852309
Varsomers137852309
Maprs137852309
PheGenIrs137852309
hapmaprs137852309
1000 genomesrs137852309
hgdprs137852309
ensemblrs137852309
gopubmedrs137852309
geneviewrs137852309
scholarrs137852309
googlers137852309
pharmgkbrs137852309
gwascentralrs137852309
openSNPrs137852309
23andMers137852309
23andMe allrs137852309
SNP Nexus

SNPshotrs137852309
SNPdbers137852309
MSV3drs137852309
GWAS Ctlgrs137852309
Max Magnitude0
OMIM301300
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137852309(G;G)
Alt rs137852309(G;G)
Reference rs137852309(C;C)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55039949G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011227.3,