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rs137852301

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852301(A;A)
Make rs137852301(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55021195
GeneALAS2
is asnp
is mentioned by
dbSNPrs137852301
ebirs137852301
HLIrs137852301
Exacrs137852301
Varsomers137852301
Maprs137852301
PheGenIrs137852301
hapmaprs137852301
1000 genomesrs137852301
hgdprs137852301
ensemblrs137852301
gopubmedrs137852301
geneviewrs137852301
scholarrs137852301
googlers137852301
pharmgkbrs137852301
gwascentralrs137852301
openSNPrs137852301
23andMers137852301
23andMe allrs137852301
SNP Nexus

SNPshotrs137852301
SNPdbers137852301
MSV3drs137852301
GWAS Ctlgrs137852301
Max Magnitude0
OMIM301300
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852301(A;A)
Alt rs137852301(A;A)
Reference rs137852301(C;C)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55047628G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011216.3,