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rs387906583

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906583(-;-)
Make rs387906583(-;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position127872758
GeneAK1
is asnp
is mentioned by
dbSNPrs387906583
ebirs387906583
HLIrs387906583
Exacrs387906583
Varsomers387906583
Maprs387906583
PheGenIrs387906583
hapmaprs387906583
1000 genomesrs387906583
hgdprs387906583
ensemblrs387906583
gopubmedrs387906583
geneviewrs387906583
scholarrs387906583
googlers387906583
pharmgkbrs387906583
gwascentralrs387906583
openSNPrs387906583
23andMers387906583
23andMe allrs387906583
SNP Nexus

SNPshotrs387906583
SNPdbers387906583
MSV3drs387906583
GWAS Ctlgrs387906583
Max Magnitude0
ClinVar
Risk rs387906583(;)
Alt rs387906583(;)
Reference rs387906583(G;G)
Significance Pathogenic
Disease Adenylate kinase deficiency
Variation info
Gene AK1
CLNDBN Adenylate kinase deficiency, hemolytic anemia due to
Reversed 1
HGVS NC_000009.11:g.130635037delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000019931.28,