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rs80338738

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338738(G;T)
Make rs80338738(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position45369325
GeneGATM
is asnp
is mentioned by
dbSNPrs80338738
ebirs80338738
HLIrs80338738
Exacrs80338738
Varsomers80338738
Maprs80338738
PheGenIrs80338738
hapmaprs80338738
1000 genomesrs80338738
hgdprs80338738
ensemblrs80338738
gopubmedrs80338738
geneviewrs80338738
scholarrs80338738
googlers80338738
pharmgkbrs80338738
gwascentralrs80338738
openSNPrs80338738
23andMers80338738
23andMe allrs80338738
SNP Nexus

SNPshotrs80338738
SNPdbers80338738
MSV3drs80338738
GWAS Ctlgrs80338738
Max Magnitude0
ClinVar
Risk rs80338738(T;T)
Alt rs80338738(T;T)
Reference rs80338738(G;G)
Significance Pathogenic
Disease Arginine:glycine amidinotransferase deficiency
Variation info
Gene GATM
CLNDBN Arginine:glycine amidinotransferase deficiency
Reversed 1
HGVS NC_000015.9:g.45661523C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020462.2,