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

rs61752478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61752478(A;A)
Make rs61752478(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position114678495
GeneAMPD1
is asnp
is mentioned by
dbSNPrs61752478
ebirs61752478
HLIrs61752478
Exacrs61752478
Varsomers61752478
Maprs61752478
PheGenIrs61752478
hapmaprs61752478
1000 genomesrs61752478
hgdprs61752478
ensemblrs61752478
gopubmedrs61752478
geneviewrs61752478
scholarrs61752478
googlers61752478
pharmgkbrs61752478
gwascentralrs61752478
openSNPrs61752478
23andMers61752478
23andMe allrs61752478
SNP Nexus

SNPshotrs61752478
SNPdbers61752478
MSV3drs61752478
GWAS Ctlgrs61752478
Max Magnitude0
ClinVar
Risk rs61752478(A;A)
Alt rs61752478(A;A)
Reference rs61752478(C;C)
Significance Pathogenic
Disease Muscle AMP deaminase deficiency
Variation info
Gene AMPD1
CLNDBN Muscle AMP deaminase deficiency
Reversed 0
HGVS NC_000001.10:g.115221116C>A
CLNSRC HGMD
CLNACC RCV000077969.4,