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rs137852311

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852311(C;T)
Make rs137852311(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55014830
GeneALAS2
is asnp
is mentioned by
dbSNPrs137852311
ebirs137852311
HLIrs137852311
Exacrs137852311
Varsomers137852311
Maprs137852311
PheGenIrs137852311
hapmaprs137852311
1000 genomesrs137852311
hgdprs137852311
ensemblrs137852311
gopubmedrs137852311
geneviewrs137852311
scholarrs137852311
googlers137852311
pharmgkbrs137852311
gwascentralrs137852311
openSNPrs137852311
23andMers137852311
23andMe allrs137852311
SNP Nexus

SNPshotrs137852311
SNPdbers137852311
MSV3drs137852311
GWAS Ctlgrs137852311
Max Magnitude0
OMIM301300
Desc
Variant0018
Relatedalso
ClinVar
Risk rs137852311(A,T;A,T)
Alt rs137852311(A,T;A,T)
Reference rs137852311(C;C)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55041263G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011231.3,