Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852305

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852305(C;T)
Make rs137852305(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position55014953
GeneALAS2
is asnp
is mentioned by
dbSNPrs137852305
ebirs137852305
HLIrs137852305
Exacrs137852305
Varsomers137852305
Maprs137852305
PheGenIrs137852305
hapmaprs137852305
1000 genomesrs137852305
hgdprs137852305
ensemblrs137852305
gopubmedrs137852305
geneviewrs137852305
scholarrs137852305
googlers137852305
pharmgkbrs137852305
gwascentralrs137852305
openSNPrs137852305
23andMers137852305
23andMe allrs137852305
SNP Nexus

SNPshotrs137852305
SNPdbers137852305
MSV3drs137852305
GWAS Ctlgrs137852305
Max Magnitude0
OMIM301300
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852305(T;T)
Alt rs137852305(T;T)
Reference rs137852305(C;C)
Significance Pathogenic
Disease Hereditary sideroblastic anemia
Variation info
Gene ALAS2
CLNDBN Hereditary sideroblastic anemia
Reversed 1
HGVS NC_000023.10:g.55041386G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011221.2,