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rs202247803

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTC;TTC) 0 common in clinvar
Make rs202247803(-;-)
Make rs202247803(-;TTC)
ReferenceGRCh38 38.1/141
Chromosome13
Position40807403
GeneGPR82, SLC25A15
is asnp
is mentioned by
dbSNPrs202247803
ebirs202247803
HLIrs202247803
Exacrs202247803
Varsomers202247803
Maprs202247803
PheGenIrs202247803
hapmaprs202247803
1000 genomesrs202247803
hgdprs202247803
ensemblrs202247803
gopubmedrs202247803
geneviewrs202247803
scholarrs202247803
googlers202247803
pharmgkbrs202247803
gwascentralrs202247803
openSNPrs202247803
23andMers202247803
23andMe allrs202247803
SNP Nexus

SNPshotrs202247803
SNPdbers202247803
MSV3drs202247803
GWAS Ctlgrs202247803
Max Magnitude0
ClinVar
Risk rs202247803(;)
Alt rs202247803(;)
Reference rs202247803(TTC;TTC)
Significance Pathogenic
Disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation info
Gene SLC25A15 TPTE2P5
CLNDBN Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed 0
HGVS NC_000013.10:g.41381539_41381541delTTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000006358.3,