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rs202247806

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202247806(A;A)
Make rs202247806(A;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position40793270
GeneSLC25A15
is asnp
is mentioned by
dbSNPrs202247806
dbSNP (classic)rs202247806
ClinGenrs202247806
ebirs202247806
HLIrs202247806
Exacrs202247806
Gnomadrs202247806
Varsomers202247806
LitVarrs202247806
Maprs202247806
PheGenIrs202247806
Biobankrs202247806
1000 genomesrs202247806
hgdprs202247806
ensemblrs202247806
geneviewrs202247806
scholarrs202247806
googlers202247806
pharmgkbrs202247806
gwascentralrs202247806
openSNPrs202247806
23andMers202247806
SNPshotrs202247806
SNPdbers202247806
MSV3drs202247806
GWAS Ctlgrs202247806
Max Magnitude0
ClinVar
Risk rs202247806(A;A)
Alt rs202247806(A;A)
Reference Rs202247806(C;C)
Significance Pathogenic
Disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation info
Gene SLC25A15
CLNDBN Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed 0
HGVS NC_000013.10:g.41367406C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031950.1,