rs746155190

Orientation

plus

Stabilized

plus

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

Make rs746155190(C;C)

Make rs746155190(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

96189654

Gene

SLC25A13

is a	snp
is	mentioned by
dbSNP	rs746155190
dbSNP (classic)	rs746155190
ClinGen	rs746155190
ebi	rs746155190
HLI	rs746155190
Exac	rs746155190
Gnomad	rs746155190
Varsome	rs746155190
LitVar	rs746155190
Map	rs746155190
PheGenI	rs746155190
Biobank	rs746155190
1000 genomes	rs746155190
hgdp	rs746155190
ensembl	rs746155190
geneview	rs746155190
scholar	rs746155190
google	rs746155190
pharmgkb	rs746155190
gwascentral	rs746155190
openSNP	rs746155190
23andMe	rs746155190
SNPshot	rs746155190
SNPdbe	rs746155190
MSV3d	rs746155190
GWAS Ctlg	rs746155190

Max Magnitude

5.7

ClinVar
Risk	Rs746155190(A;A) rs746155190(C;C)
Alt	Rs746155190(A;A) rs746155190(C;C)
Reference	Rs746155190(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	0
HGVS	NC_000007.13:g.95818966G>A
CLNSRC
CLNACC	RCV000239387.1,