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rs104894102

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894102(C;T)
Make rs104894102(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position127871828
GeneAK1
is asnp
is mentioned by
dbSNPrs104894102
ebirs104894102
HLIrs104894102
Exacrs104894102
Varsomers104894102
Maprs104894102
PheGenIrs104894102
hapmaprs104894102
1000 genomesrs104894102
hgdprs104894102
ensemblrs104894102
gopubmedrs104894102
geneviewrs104894102
scholarrs104894102
googlers104894102
pharmgkbrs104894102
gwascentralrs104894102
openSNPrs104894102
23andMers104894102
23andMe allrs104894102
SNP Nexus

SNPshotrs104894102
SNPdbers104894102
MSV3drs104894102
GWAS Ctlgrs104894102
Max Magnitude0
OMIM103000
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894102(T;T)
Alt rs104894102(T;T)
Reference rs104894102(C;C)
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.130634107G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019926.27,