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rs104894430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894430(A;A)
Make rs104894430(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position40799080
GeneGPR82, SLC25A15
is asnp
is mentioned by
dbSNPrs104894430
ebirs104894430
HLIrs104894430
Exacrs104894430
Varsomers104894430
Maprs104894430
PheGenIrs104894430
hapmaprs104894430
1000 genomesrs104894430
hgdprs104894430
ensemblrs104894430
gopubmedrs104894430
geneviewrs104894430
scholarrs104894430
googlers104894430
pharmgkbrs104894430
gwascentralrs104894430
openSNPrs104894430
23andMers104894430
23andMe allrs104894430
SNP Nexus

SNPshotrs104894430
SNPdbers104894430
MSV3drs104894430
GWAS Ctlgrs104894430
Max Magnitude0
OMIM603861
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894430(A;A)
Alt rs104894430(A;A)
Reference rs104894430(G;G)
Significance Pathogenic
Disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation info
Gene SLC25A15 TPTE2P5
CLNDBN Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed 0
HGVS NC_000013.10:g.41373216G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006361.1,