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rs141028076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs141028076(C;T)
Make rs141028076(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position40807405
GeneSLC25A15, TPTE2P5
is asnp
is mentioned by
dbSNPrs141028076
dbSNP (classic)rs141028076
ClinGenrs141028076
ebirs141028076
HLIrs141028076
Exacrs141028076
Gnomadrs141028076
Varsomers141028076
LitVarrs141028076
Maprs141028076
PheGenIrs141028076
Biobankrs141028076
1000 genomesrs141028076
hgdprs141028076
ensemblrs141028076
geneviewrs141028076
scholarrs141028076
googlers141028076
pharmgkbrs141028076
gwascentralrs141028076
openSNPrs141028076
23andMers141028076
SNPshotrs141028076
SNPdbers141028076
MSV3drs141028076
GWAS Ctlgrs141028076
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs141028076(G;G) rs141028076(T;T)
Alt rs141028076(G;G) rs141028076(T;T)
Reference Rs141028076(C;C)
Significance Pathogenic
Disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome not specified
Variation info
Gene SLC25A15 TPTE2P5
CLNDBN Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome not specified
Reversed 0
HGVS NC_000013.10:g.41381541C>G; NC_000013.10:g.41381541C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000031951.1, RCV000434750.1,