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rs121912682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912682(A;A)
Make rs121912682(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position114677465
GeneAMPD1
is asnp
is mentioned by
dbSNPrs121912682
ebirs121912682
HLIrs121912682
Exacrs121912682
Varsomers121912682
Maprs121912682
PheGenIrs121912682
hapmaprs121912682
1000 genomesrs121912682
hgdprs121912682
ensemblrs121912682
gopubmedrs121912682
geneviewrs121912682
scholarrs121912682
googlers121912682
pharmgkbrs121912682
gwascentralrs121912682
openSNPrs121912682
23andMers121912682
23andMe allrs121912682
SNP Nexus

SNPshotrs121912682
SNPdbers121912682
MSV3drs121912682
GWAS Ctlgrs121912682
GMAF0.0009183
Max Magnitude0
OMIM102770
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912682(A;A)
Alt rs121912682(A;A)
Reference rs121912682(G;G)
Significance Pathogenic
Disease Muscle AMP deaminase deficiency not provided
Variation info
Gene AMPD1
CLNDBN Muscle AMP deaminase deficiency not provided
Reversed 1
HGVS NC_000001.10:g.115220086C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019935.31, RCV000173624.1,