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rs121908533

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908533(G;G)
Make rs121908533(G;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position40799111
GeneGPR82, SLC25A15
is asnp
is mentioned by
dbSNPrs121908533
ebirs121908533
HLIrs121908533
Exacrs121908533
Varsomers121908533
Maprs121908533
PheGenIrs121908533
hapmaprs121908533
1000 genomesrs121908533
hgdprs121908533
ensemblrs121908533
gopubmedrs121908533
geneviewrs121908533
scholarrs121908533
googlers121908533
pharmgkbrs121908533
gwascentralrs121908533
openSNPrs121908533
23andMers121908533
23andMe allrs121908533
SNP Nexus

SNPshotrs121908533
SNPdbers121908533
MSV3drs121908533
GWAS Ctlgrs121908533
Max Magnitude0
OMIM603861
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908533(G;G)
Alt rs121908533(G;G)
Reference rs121908533(T;T)
Significance Pathogenic
Disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation info
Gene SLC25A15 TPTE2P5
CLNDBN Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed 0
HGVS NC_000013.10:g.41373247T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006363.1,