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rs35859650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs35859650(A;A)
Make rs35859650(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position114677972
GeneAMPD1
is asnp
is mentioned by
dbSNPrs35859650
ebirs35859650
HLIrs35859650
Exacrs35859650
Varsomers35859650
Maprs35859650
PheGenIrs35859650
hapmaprs35859650
1000 genomesrs35859650
hgdprs35859650
ensemblrs35859650
gopubmedrs35859650
geneviewrs35859650
scholarrs35859650
googlers35859650
pharmgkbrs35859650
gwascentralrs35859650
openSNPrs35859650
23andMers35859650
23andMe allrs35859650
SNP Nexus

SNPshotrs35859650
SNPdbers35859650
MSV3drs35859650
GWAS Ctlgrs35859650
GMAF0.001377
Max Magnitude0
OMIM102770
Desc
Variant0002
Relatedalso


ClinVar
Risk rs35859650(A;A)
Alt rs35859650(A;A)
Reference rs35859650(G;G)
Significance Pathogenic
Disease Muscle AMP deaminase deficiency
Variation info
Gene AMPD1
CLNDBN Muscle AMP deaminase deficiency
Reversed 0
HGVS NC_000001.10:g.115220593G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019934.30,