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rs121908535

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908535(C;T)
Make rs121908535(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position40809576
GeneMIR621, SLC25A15, TPTE2P5
is asnp
is mentioned by
dbSNPrs121908535
dbSNP (classic)rs121908535
ClinGenrs121908535
ebirs121908535
HLIrs121908535
Exacrs121908535
Gnomadrs121908535
Varsomers121908535
LitVarrs121908535
Maprs121908535
PheGenIrs121908535
Biobankrs121908535
1000 genomesrs121908535
hgdprs121908535
ensemblrs121908535
geneviewrs121908535
scholarrs121908535
googlers121908535
pharmgkbrs121908535
gwascentralrs121908535
openSNPrs121908535
23andMers121908535
SNPshotrs121908535
SNPdbers121908535
MSV3drs121908535
GWAS Ctlgrs121908535
Max Magnitude0
OMIM603861
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908535(T;T)
Alt rs121908535(T;T)
Reference Rs121908535(C;C)
Significance Pathogenic
Disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation info
Gene SLC25A15 MIR621 TPTE2P5
CLNDBN Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed 0
HGVS NC_000013.10:g.41383712C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006365.1,