rs879255504

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

96193157

Gene

SLC25A13

is a	snp
is	mentioned by
dbSNP	rs879255504
dbSNP (classic)	rs879255504
ClinGen	rs879255504
ebi	rs879255504
HLI	rs879255504
Exac	rs879255504
Gnomad	rs879255504
Varsome	rs879255504
LitVar	rs879255504
Map	rs879255504
PheGenI	rs879255504
Biobank	rs879255504
1000 genomes	rs879255504
hgdp	rs879255504
ensembl	rs879255504
geneview	rs879255504
scholar	rs879255504
google	rs879255504
pharmgkb	rs879255504
gwascentral	rs879255504
openSNP	rs879255504
23andMe	rs879255504
SNPshot	rs879255504
SNPdbe	rs879255504
MSV3d	rs879255504
GWAS Ctlg	rs879255504

Max Magnitude

5.7

ClinVar
Risk	Rs879255504(-;-)
Alt	Rs879255504(-;-)
Reference	Rs879255504(A;A)
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.95822469delT
CLNSRC
CLNACC	RCV000239388.1,