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rs137852307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852307(A;A)
Make rs137852307(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55015000
GeneALAS2
is asnp
is mentioned by
dbSNPrs137852307
ebirs137852307
HLIrs137852307
Exacrs137852307
Varsomers137852307
Maprs137852307
PheGenIrs137852307
hapmaprs137852307
1000 genomesrs137852307
hgdprs137852307
ensemblrs137852307
gopubmedrs137852307
geneviewrs137852307
scholarrs137852307
googlers137852307
pharmgkbrs137852307
gwascentralrs137852307
openSNPrs137852307
23andMers137852307
23andMe allrs137852307
SNP Nexus

SNPshotrs137852307
SNPdbers137852307
MSV3drs137852307
GWAS Ctlgrs137852307
Max Magnitude0
OMIM301300
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852307(A;A)
Alt rs137852307(A;A)
Reference rs137852307(G;G)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55041433C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011223.3,