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rs202247805

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202247805(A;A)
Make rs202247805(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position40808473
GeneGPR82, SLC25A15
is asnp
is mentioned by
dbSNPrs202247805
ebirs202247805
HLIrs202247805
Exacrs202247805
Varsomers202247805
Maprs202247805
PheGenIrs202247805
hapmaprs202247805
1000 genomesrs202247805
hgdprs202247805
ensemblrs202247805
gopubmedrs202247805
geneviewrs202247805
scholarrs202247805
googlers202247805
pharmgkbrs202247805
gwascentralrs202247805
openSNPrs202247805
23andMers202247805
23andMe allrs202247805
SNP Nexus

SNPshotrs202247805
SNPdbers202247805
MSV3drs202247805
GWAS Ctlgrs202247805
Max Magnitude0
ClinVar
Risk rs202247805(A;A)
Alt rs202247805(A;A)
Reference rs202247805(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.41382609G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031953.1,