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rs121908536

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908536(C;G)
Make rs121908536(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position40799096
GeneSLC25A15, TPTE2P5
is asnp
is mentioned by
dbSNPrs121908536
dbSNP (classic)rs121908536
ClinGenrs121908536
ebirs121908536
HLIrs121908536
Exacrs121908536
Gnomadrs121908536
Varsomers121908536
LitVarrs121908536
Maprs121908536
PheGenIrs121908536
Biobankrs121908536
1000 genomesrs121908536
hgdprs121908536
ensemblrs121908536
geneviewrs121908536
scholarrs121908536
googlers121908536
pharmgkbrs121908536
gwascentralrs121908536
openSNPrs121908536
23andMers121908536
SNPshotrs121908536
SNPdbers121908536
MSV3drs121908536
GWAS Ctlgrs121908536
Max Magnitude0
OMIM603861
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121908536(G;G)
Alt rs121908536(G;G)
Reference Rs121908536(C;C)
Significance Pathogenic
Disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation info
Gene SLC25A15 TPTE2P5
CLNDBN Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed 0
HGVS NC_000013.10:g.41373232C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006366.1,