rs139149160

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

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

96131829

Gene

SLC25A13

is a	snp
is	mentioned by
dbSNP	rs139149160
dbSNP (classic)	rs139149160
ClinGen	rs139149160
ebi	rs139149160
HLI	rs139149160
Exac	rs139149160
Gnomad	rs139149160
Varsome	rs139149160
LitVar	rs139149160
Map	rs139149160
PheGenI	rs139149160
Biobank	rs139149160
1000 genomes	rs139149160
hgdp	rs139149160
ensembl	rs139149160
geneview	rs139149160
scholar	rs139149160
google	rs139149160
pharmgkb	rs139149160
gwascentral	rs139149160
openSNP	rs139149160
23andMe	rs139149160
SNPshot	rs139149160
SNPdbe	rs139149160
MSV3d	rs139149160
GWAS Ctlg	rs139149160

Max Magnitude

5.7

ClinVar
Risk	Rs139149160(A;A)
Alt	Rs139149160(A;A)
Reference	Rs139149160(G;G)
Significance	Probable-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.95761141G>A
CLNSRC
CLNACC	RCV000239389.1,