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rs397514709

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514709(A;C)
Make rs397514709(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position45368137
GeneGATM
is asnp
is mentioned by
dbSNPrs397514709
ebirs397514709
HLIrs397514709
Exacrs397514709
Varsomers397514709
Maprs397514709
PheGenIrs397514709
hapmaprs397514709
1000 genomesrs397514709
hgdprs397514709
ensemblrs397514709
gopubmedrs397514709
geneviewrs397514709
scholarrs397514709
googlers397514709
pharmgkbrs397514709
gwascentralrs397514709
openSNPrs397514709
23andMers397514709
23andMe allrs397514709
SNP Nexus

SNPshotrs397514709
SNPdbers397514709
MSV3drs397514709
GWAS Ctlgrs397514709
Max Magnitude0
ClinVar
Risk rs397514709(C;C)
Alt rs397514709(C;C)
Reference rs397514709(A;A)
Significance Pathogenic
Disease Arginine:glycine amidinotransferase deficiency
Variation info
Gene GATM
CLNDBN Arginine:glycine amidinotransferase deficiency
Reversed 1
HGVS NC_000015.9:g.45660335T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000049334.3,