Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338719

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338719(A;A)
Make rs80338719(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position96191189
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs80338719
ebirs80338719
HLIrs80338719
Exacrs80338719
Varsomers80338719
Maprs80338719
PheGenIrs80338719
hapmaprs80338719
1000 genomesrs80338719
hgdprs80338719
ensemblrs80338719
gopubmedrs80338719
geneviewrs80338719
scholarrs80338719
googlers80338719
pharmgkbrs80338719
gwascentralrs80338719
openSNPrs80338719
23andMers80338719
23andMe allrs80338719
SNP Nexus

SNPshotrs80338719
SNPdbers80338719
MSV3drs80338719
GWAS Ctlgrs80338719
Max Magnitude0
OMIM603859
Desc
Variant0004
Relatedalso
ClinVar
Risk rs80338719(A,T;A,T)
Alt rs80338719(A,T;A,T)
Reference rs80338719(C;C)
Significance Pathogenic
Disease Citrullinemia type II
Variation info
Gene SLC25A13
CLNDBN Citrullinemia type II
Reversed 1
HGVS NC_000007.13:g.95820501G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006372.3,


[PMID 10369257] The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.