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rs104894429

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894429(C;T)
Make rs104894429(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position40807376
GeneGPR82, SLC25A15
is asnp
is mentioned by
dbSNPrs104894429
ebirs104894429
HLIrs104894429
Exacrs104894429
Varsomers104894429
Maprs104894429
PheGenIrs104894429
hapmaprs104894429
1000 genomesrs104894429
hgdprs104894429
ensemblrs104894429
gopubmedrs104894429
geneviewrs104894429
scholarrs104894429
googlers104894429
pharmgkbrs104894429
gwascentralrs104894429
openSNPrs104894429
23andMers104894429
23andMe allrs104894429
SNP Nexus

SNPshotrs104894429
SNPdbers104894429
MSV3drs104894429
GWAS Ctlgrs104894429
Max Magnitude0
OMIM603861
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894429(T;T)
Alt rs104894429(T;T)
Reference rs104894429(C;C)
Significance Pathogenic
Disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation info
Gene SLC25A15 TPTE2P5
CLNDBN Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed 0
HGVS NC_000013.10:g.41381512C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006360.1,