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rs397515542

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515542(-;-)
Make rs397515542(-;A)
Make rs397515542(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position45363947
GeneGATM
is asnp
is mentioned by
dbSNPrs397515542
ebirs397515542
HLIrs397515542
Exacrs397515542
Varsomers397515542
Maprs397515542
PheGenIrs397515542
hapmaprs397515542
1000 genomesrs397515542
hgdprs397515542
ensemblrs397515542
gopubmedrs397515542
geneviewrs397515542
scholarrs397515542
googlers397515542
pharmgkbrs397515542
gwascentralrs397515542
openSNPrs397515542
23andMers397515542
23andMe allrs397515542
SNP Nexus

SNPshotrs397515542
SNPdbers397515542
MSV3drs397515542
GWAS Ctlgrs397515542
Max Magnitude0
ClinVar
Risk rs397515542(A;A)
Alt rs397515542(A;A)
Reference rs397515542(;)
Significance Pathogenic
Disease Arginine:glycine amidinotransferase deficiency
Variation info
Gene GATM
CLNDBN Arginine:glycine amidinotransferase deficiency
Reversed 1
HGVS NC_000015.9:g.45656146dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000049331.6,