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rs140772352

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140772352(C;C)
Make rs140772352(C;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position55031184
GeneALAS2, PAGE2B
is asnp
is mentioned by
dbSNPrs140772352
ebirs140772352
HLIrs140772352
Exacrs140772352
Varsomers140772352
Maprs140772352
PheGenIrs140772352
hapmaprs140772352
1000 genomesrs140772352
hgdprs140772352
ensemblrs140772352
gopubmedrs140772352
geneviewrs140772352
scholarrs140772352
googlers140772352
pharmgkbrs140772352
gwascentralrs140772352
openSNPrs140772352
23andMers140772352
23andMe allrs140772352
SNP Nexus

SNPshotrs140772352
SNPdbers140772352
MSV3drs140772352
GWAS Ctlgrs140772352
Max Magnitude0
ClinVar
Risk rs140772352(C;C)
Alt rs140772352(C;C)
Reference rs140772352(G;G)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 0
HGVS NC_000023.10:g.55057617G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011226.3,