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rs202247807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202247807(C;T)
Make rs202247807(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position40809584
GeneGPR82, MIR621, SLC25A15
is asnp
is mentioned by
dbSNPrs202247807
ebirs202247807
HLIrs202247807
Exacrs202247807
Varsomers202247807
Maprs202247807
PheGenIrs202247807
hapmaprs202247807
1000 genomesrs202247807
hgdprs202247807
ensemblrs202247807
gopubmedrs202247807
geneviewrs202247807
scholarrs202247807
googlers202247807
pharmgkbrs202247807
gwascentralrs202247807
openSNPrs202247807
23andMers202247807
23andMe allrs202247807
SNP Nexus

SNPshotrs202247807
SNPdbers202247807
MSV3drs202247807
GWAS Ctlgrs202247807
Max Magnitude0
ClinVar
Risk rs202247807(T;T)
Alt rs202247807(T;T)
Reference rs202247807(C;C)
Significance Pathogenic
Disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation info
Gene SLC25A15 MIR621 TPTE2P5
CLNDBN Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed 0
HGVS NC_000013.10:g.41383720C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000031955.1,