Have questions? Visit https://www.reddit.com/r/SNPedia

rs34526199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs34526199(A;A)
Make rs34526199(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position114679616
GeneAMPD1
is asnp
is mentioned by
dbSNPrs34526199
ebirs34526199
HLIrs34526199
Exacrs34526199
Varsomers34526199
Maprs34526199
PheGenIrs34526199
hapmaprs34526199
1000 genomesrs34526199
hgdprs34526199
ensemblrs34526199
gopubmedrs34526199
geneviewrs34526199
scholarrs34526199
googlers34526199
pharmgkbrs34526199
gwascentralrs34526199
openSNPrs34526199
23andMers34526199
23andMe allrs34526199
SNP Nexus

SNPshotrs34526199
SNPdbers34526199
MSV3drs34526199
GWAS Ctlgrs34526199
Max Magnitude0
ClinVar
Risk rs34526199(A;A)
Alt rs34526199(A;A)
Reference rs34526199(T;T)
Significance Pathogenic
Disease Muscle AMP deaminase deficiency
Variation info
Gene AMPD1
CLNDBN Muscle AMP deaminase deficiency
Reversed 0
HGVS NC_000001.10:g.115222237T>A
CLNSRC HGMD
CLNACC RCV000077979.4,