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rs137852304

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852304(A;A)
Make rs137852304(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55021176
GeneALAS2
is asnp
is mentioned by
dbSNPrs137852304
ebirs137852304
HLIrs137852304
Exacrs137852304
Varsomers137852304
Maprs137852304
PheGenIrs137852304
hapmaprs137852304
1000 genomesrs137852304
hgdprs137852304
ensemblrs137852304
gopubmedrs137852304
geneviewrs137852304
scholarrs137852304
googlers137852304
pharmgkbrs137852304
gwascentralrs137852304
openSNPrs137852304
23andMers137852304
23andMe allrs137852304
SNP Nexus

SNPshotrs137852304
SNPdbers137852304
MSV3drs137852304
GWAS Ctlgrs137852304
Max Magnitude0
OMIM301300
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852304(A;A)
Alt rs137852304(A;A)
Reference rs137852304(G;G)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55047609C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011219.3,