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rs398123114

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTTT;CTTT) 0 common in clinvar
Make rs398123114(-;-)
Make rs398123114(-;CTTT)
ReferenceGRCh38 38.1/141
Chromosome1
Position114688745
GeneAMPD1
is asnp
is mentioned by
dbSNPrs398123114
ebirs398123114
HLIrs398123114
Exacrs398123114
Varsomers398123114
Maprs398123114
PheGenIrs398123114
hapmaprs398123114
1000 genomesrs398123114
hgdprs398123114
ensemblrs398123114
gopubmedrs398123114
geneviewrs398123114
scholarrs398123114
googlers398123114
pharmgkbrs398123114
gwascentralrs398123114
openSNPrs398123114
23andMers398123114
23andMe allrs398123114
SNP Nexus

SNPshotrs398123114
SNPdbers398123114
MSV3drs398123114
GWAS Ctlgrs398123114
Max Magnitude0
ClinVar
Risk rs398123114(;)
Alt rs398123114(;)
Reference rs398123114(CTTT;CTTT)
Significance Pathogenic
Disease Muscle AMP deaminase deficiency
Variation info
Gene AMPD1
CLNDBN Muscle AMP deaminase deficiency
Reversed 1
HGVS NC_000001.10:g.115231366_115231369delAAAG
CLNSRC HGMD
CLNACC RCV000077972.4,