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rs104894101

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894101(C;T)
Make rs104894101(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position127868455
GeneAK1
is asnp
is mentioned by
dbSNPrs104894101
ebirs104894101
HLIrs104894101
Exacrs104894101
Varsomers104894101
Maprs104894101
PheGenIrs104894101
hapmaprs104894101
1000 genomesrs104894101
hgdprs104894101
ensemblrs104894101
gopubmedrs104894101
geneviewrs104894101
scholarrs104894101
googlers104894101
pharmgkbrs104894101
gwascentralrs104894101
openSNPrs104894101
23andMers104894101
23andMe allrs104894101
SNP Nexus

SNPshotrs104894101
SNPdbers104894101
MSV3drs104894101
GWAS Ctlgrs104894101
Merged fromRs28930974
Max Magnitude0
OMIM103000
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894101(T;T)
Alt rs104894101(T;T)
Reference rs104894101(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.130630734G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019925.29,