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rs137852302

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852302(A;A)
Make rs137852302(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55017618
GeneALAS2
is asnp
is mentioned by
dbSNPrs137852302
ebirs137852302
HLIrs137852302
Exacrs137852302
Varsomers137852302
Maprs137852302
PheGenIrs137852302
hapmaprs137852302
1000 genomesrs137852302
hgdprs137852302
ensemblrs137852302
gopubmedrs137852302
geneviewrs137852302
scholarrs137852302
googlers137852302
pharmgkbrs137852302
gwascentralrs137852302
openSNPrs137852302
23andMers137852302
23andMe allrs137852302
SNP Nexus

SNPshotrs137852302
SNPdbers137852302
MSV3drs137852302
GWAS Ctlgrs137852302
Max Magnitude0
OMIM301300
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852302(A;A)
Alt rs137852302(A;A)
Reference rs137852302(G;G)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55044051C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011217.4,