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rs202247809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202247809(C;T)
Make rs202247809(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position40809608
GeneGPR82, MIR621, SLC25A15
is asnp
is mentioned by
dbSNPrs202247809
ebirs202247809
HLIrs202247809
Exacrs202247809
Varsomers202247809
Maprs202247809
PheGenIrs202247809
hapmaprs202247809
1000 genomesrs202247809
hgdprs202247809
ensemblrs202247809
gopubmedrs202247809
geneviewrs202247809
scholarrs202247809
googlers202247809
pharmgkbrs202247809
gwascentralrs202247809
openSNPrs202247809
23andMers202247809
23andMe allrs202247809
SNP Nexus

SNPshotrs202247809
SNPdbers202247809
MSV3drs202247809
GWAS Ctlgrs202247809
Max Magnitude0
ClinVar
Risk rs202247809(T;T)
Alt rs202247809(T;T)
Reference rs202247809(C;C)
Significance Pathogenic
Disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation info
Gene MIR621 SLC25A15 TPTE2P5
CLNDBN Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed 0
HGVS NC_000013.10:g.41383744C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000031956.1,