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rs387906582

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAC;GAC) 0 common in clinvar
Make rs387906582(-;-)
Make rs387906582(-;GAC)
ReferenceGRCh38 38.1/141
Chromosome9
Position127868414
GeneAK1
is asnp
is mentioned by
dbSNPrs387906582
ebirs387906582
HLIrs387906582
Exacrs387906582
Varsomers387906582
Maprs387906582
PheGenIrs387906582
hapmaprs387906582
1000 genomesrs387906582
hgdprs387906582
ensemblrs387906582
gopubmedrs387906582
geneviewrs387906582
scholarrs387906582
googlers387906582
pharmgkbrs387906582
gwascentralrs387906582
openSNPrs387906582
23andMers387906582
23andMe allrs387906582
SNP Nexus

SNPshotrs387906582
SNPdbers387906582
MSV3drs387906582
GWAS Ctlgrs387906582
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs387906582(GAC;GAC)
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.130630693_130630695delGTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000019930.26,