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rs397514708

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514708(C;T)
Make rs397514708(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position45368240
GeneGATM
is asnp
is mentioned by
dbSNPrs397514708
ebirs397514708
HLIrs397514708
Exacrs397514708
Varsomers397514708
Maprs397514708
PheGenIrs397514708
hapmaprs397514708
1000 genomesrs397514708
hgdprs397514708
ensemblrs397514708
gopubmedrs397514708
geneviewrs397514708
scholarrs397514708
googlers397514708
pharmgkbrs397514708
gwascentralrs397514708
openSNPrs397514708
23andMers397514708
23andMe allrs397514708
SNP Nexus

SNPshotrs397514708
SNPdbers397514708
MSV3drs397514708
GWAS Ctlgrs397514708
Max Magnitude0
ClinVar
Risk rs397514708(T;T)
Alt rs397514708(T;T)
Reference rs397514708(C;C)
Significance Pathogenic
Disease Arginine:glycine amidinotransferase deficiency
Variation info
Gene GATM
CLNDBN Arginine:glycine amidinotransferase deficiency
Reversed 1
HGVS NC_000015.9:g.45660438G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000049332.3,