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rs137853205

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853205(A;A)
Make rs137853205(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position127872707
GeneAK1
is asnp
is mentioned by
dbSNPrs137853205
ebirs137853205
HLIrs137853205
Exacrs137853205
Varsomers137853205
Maprs137853205
PheGenIrs137853205
hapmaprs137853205
1000 genomesrs137853205
hgdprs137853205
ensemblrs137853205
gopubmedrs137853205
geneviewrs137853205
scholarrs137853205
googlers137853205
pharmgkbrs137853205
gwascentralrs137853205
openSNPrs137853205
23andMers137853205
23andMe allrs137853205
SNP Nexus

SNPshotrs137853205
SNPdbers137853205
MSV3drs137853205
GWAS Ctlgrs137853205
Max Magnitude0
OMIM103000
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853205(A;A)
Alt rs137853205(A;A)
Reference rs137853205(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.130634986C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019929.28,