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rs139582106

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139582106(A;A)
Make rs139582106(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position114684278
GeneAMPD1
is asnp
is mentioned by
dbSNPrs139582106
ebirs139582106
HLIrs139582106
Exacrs139582106
Varsomers139582106
Maprs139582106
PheGenIrs139582106
hapmaprs139582106
1000 genomesrs139582106
hgdprs139582106
ensemblrs139582106
gopubmedrs139582106
geneviewrs139582106
scholarrs139582106
googlers139582106
pharmgkbrs139582106
gwascentralrs139582106
openSNPrs139582106
23andMers139582106
23andMe allrs139582106
SNP Nexus

SNPshotrs139582106
SNPdbers139582106
MSV3drs139582106
GWAS Ctlgrs139582106
Max Magnitude0
ClinVar
Risk rs139582106(A;A)
Alt rs139582106(A;A)
Reference rs139582106(C;C)
Significance Probable-Pathogenic
Disease Muscle AMP deaminase deficiency
Variation info
Gene AMPD1
CLNDBN Muscle AMP deaminase deficiency
Reversed 0
HGVS NC_000001.10:g.115226899C>A
CLNSRC
CLNACC RCV000178704.1,