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rs137852300

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852300(C;G)
Make rs137852300(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55015583
GeneALAS2
is asnp
is mentioned by
dbSNPrs137852300
ebirs137852300
HLIrs137852300
Exacrs137852300
Varsomers137852300
Maprs137852300
PheGenIrs137852300
hapmaprs137852300
1000 genomesrs137852300
hgdprs137852300
ensemblrs137852300
gopubmedrs137852300
geneviewrs137852300
scholarrs137852300
googlers137852300
pharmgkbrs137852300
gwascentralrs137852300
openSNPrs137852300
23andMers137852300
23andMe allrs137852300
SNP Nexus

SNPshotrs137852300
SNPdbers137852300
MSV3drs137852300
GWAS Ctlgrs137852300
Max Magnitude0
OMIM301300
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852300(G;G)
Alt rs137852300(G;G)
Reference rs137852300(C;C)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55042016G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011215.5,