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rs80338723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338723(A;A)
Make rs80338723(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position96170044
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs80338723
ebirs80338723
HLIrs80338723
Exacrs80338723
Varsomers80338723
Maprs80338723
PheGenIrs80338723
hapmaprs80338723
1000 genomesrs80338723
hgdprs80338723
ensemblrs80338723
gopubmedrs80338723
geneviewrs80338723
scholarrs80338723
googlers80338723
pharmgkbrs80338723
gwascentralrs80338723
openSNPrs80338723
23andMers80338723
23andMe allrs80338723
SNP Nexus

SNPshotrs80338723
SNPdbers80338723
MSV3drs80338723
GWAS Ctlgrs80338723
Max Magnitude0
OMIM603859
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80338723(A,C,T;A,C,T)
Alt rs80338723(A,C,T;A,C,T)
Reference rs80338723(G;G)
Significance Pathogenic
Disease Citrullinemia type II
Variation info
Gene SLC25A13
CLNDBN Citrullinemia type II
Reversed 1
HGVS NC_000007.13:g.95799356C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006373.1,


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