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rs137853203

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853203(A;G)
Make rs137853203(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position127868346
GeneAK1
is asnp
is mentioned by
dbSNPrs137853203
ebirs137853203
HLIrs137853203
Exacrs137853203
Varsomers137853203
Maprs137853203
PheGenIrs137853203
hapmaprs137853203
1000 genomesrs137853203
hgdprs137853203
ensemblrs137853203
gopubmedrs137853203
geneviewrs137853203
scholarrs137853203
googlers137853203
pharmgkbrs137853203
gwascentralrs137853203
openSNPrs137853203
23andMers137853203
23andMe allrs137853203
SNP Nexus

SNPshotrs137853203
SNPdbers137853203
MSV3drs137853203
GWAS Ctlgrs137853203
Max Magnitude0
OMIM103000
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853203(G;G)
Alt rs137853203(G;G)
Reference rs137853203(A;A)
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.130630625T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019927.28,