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rs202247808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs202247808(A;A)
Make rs202247808(A;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position40809579
GeneGPR82, MIR621, SLC25A15
is asnp
is mentioned by
dbSNPrs202247808
ebirs202247808
HLIrs202247808
Exacrs202247808
Varsomers202247808
Maprs202247808
PheGenIrs202247808
hapmaprs202247808
1000 genomesrs202247808
hgdprs202247808
ensemblrs202247808
gopubmedrs202247808
geneviewrs202247808
scholarrs202247808
googlers202247808
pharmgkbrs202247808
gwascentralrs202247808
openSNPrs202247808
23andMers202247808
23andMe allrs202247808
SNP Nexus

SNPshotrs202247808
SNPdbers202247808
MSV3drs202247808
GWAS Ctlgrs202247808
Max Magnitude0
ClinVar
Risk rs202247808(A;A)
Alt rs202247808(A;A)
Reference rs202247808(T;T)
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.41383715T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031954.1,