rs80338718

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	5.7	Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset
(C;G)	3	Carrier of a citrullinemia/citrin deficiency allele
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

7

Position

96193036

Gene

SLC25A13

is a	snp
is	mentioned by
dbSNP	rs80338718
dbSNP (classic)	rs80338718
ClinGen	rs80338718
ebi	rs80338718
HLI	rs80338718
Exac	rs80338718
Gnomad	rs80338718
Varsome	rs80338718
LitVar	rs80338718
Map	rs80338718
PheGenI	rs80338718
Biobank	rs80338718
1000 genomes	rs80338718
hgdp	rs80338718
ensembl	rs80338718
geneview	rs80338718
scholar	rs80338718
google	rs80338718
pharmgkb	rs80338718
gwascentral	rs80338718
openSNP	rs80338718
23andMe	rs80338718
SNPshot	rs80338718
SNPdbe	rs80338718
MSV3d	rs80338718
GWAS Ctlg	rs80338718

Max Magnitude

5.7

ClinVar
Risk	Rs80338718(C;C)
Alt	Rs80338718(C;C)
Reference	Rs80338718(G;G)
Significance	Pathogenic
Disease	Neonatal intrahepatic cholestasis caused by citrin deficiency
Variation	info
Gene	SLC25A13
CLNDBN	Neonatal intrahepatic cholestasis caused by citrin deficiency
Reversed	1
HGVS	NC_000007.13:g.95822348C>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020706.1,

[PMID 16059747] Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.