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rs137853204

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853204(A;A)
Make rs137853204(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position127872779
GeneAK1
is asnp
is mentioned by
dbSNPrs137853204
ebirs137853204
HLIrs137853204
Exacrs137853204
Varsomers137853204
Maprs137853204
PheGenIrs137853204
hapmaprs137853204
1000 genomesrs137853204
hgdprs137853204
ensemblrs137853204
gopubmedrs137853204
geneviewrs137853204
scholarrs137853204
googlers137853204
pharmgkbrs137853204
gwascentralrs137853204
openSNPrs137853204
23andMers137853204
23andMe allrs137853204
SNP Nexus

SNPshotrs137853204
SNPdbers137853204
MSV3drs137853204
GWAS Ctlgrs137853204
Max Magnitude0
OMIM103000
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853204(A;A)
Alt rs137853204(A;A)
Reference rs137853204(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.130635058C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019928.27,