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rs121908532

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5.7 Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset
(A;G) 3 Carrier of a citrullinemia/citrin deficiency allele
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position96121733
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs121908532
dbSNP (old)rs121908532
ClinGenrs121908532
ebirs121908532
HLIrs121908532
Exacrs121908532
Varsomers121908532
Maprs121908532
PheGenIrs121908532
Biobankrs121908532
1000 genomesrs121908532
hgdprs121908532
ensemblrs121908532
gopubmedrs121908532
geneviewrs121908532
scholarrs121908532
googlers121908532
pharmgkbrs121908532
gwascentralrs121908532
openSNPrs121908532
23andMers121908532
23andMe allrs121908532
SNP Nexus

SNPshotrs121908532
SNPdbers121908532
MSV3drs121908532
GWAS Ctlgrs121908532
Max Magnitude5.7

SLC25A13 gene, c.1763G>A (p.Arg588Gln)

23andMe name: i5007232

OMIM603859
Desc
Variant0007
Relatedalso
ClinVar
Risk Rs121908532(A;A)
Alt Rs121908532(A;A)
Reference Rs121908532(G;G)
Significance Pathogenic
Disease Citrullinemia type II
Variation info
Gene SLC25A13
CLNDBN Citrullinemia type II
Reversed 1
HGVS NC_000007.13:g.95751045C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006376.4,