rs1060499612

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1060499612(C;C)

Make rs1060499612(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

96208837

Gene

SLC25A13

is a	snp
is	mentioned by
dbSNP	rs1060499612
dbSNP (classic)	rs1060499612
ClinGen	rs1060499612
ebi	rs1060499612
HLI	rs1060499612
Exac	rs1060499612
Gnomad	rs1060499612
Varsome	rs1060499612
LitVar	rs1060499612
Map	rs1060499612
PheGenI	rs1060499612
Biobank	rs1060499612
1000 genomes	rs1060499612
hgdp	rs1060499612
ensembl	rs1060499612
geneview	rs1060499612
scholar	rs1060499612
google	rs1060499612
pharmgkb	rs1060499612
gwascentral	rs1060499612
openSNP	rs1060499612
23andMe	rs1060499612
SNPshot	rs1060499612
SNPdbe	rs1060499612
MSV3d	rs1060499612
GWAS Ctlg	rs1060499612

Max Magnitude

0

ClinVar
Risk	rs1060499612(C;C)
Alt	rs1060499612(C;C)
Reference	Rs1060499612(G;G)
Significance	Probable-Pathogenic
Disease	Citrullinemia type II Neonatal intrahepatic cholestasis caused by citrin deficiency
Variation	info
Gene	SLC25A13
CLNDBN	Citrullinemia type II Neonatal intrahepatic cholestasis caused by citrin deficiency
Reversed	1
HGVS	NC_000007.13:g.95838149C>G
CLNSRC
CLNACC	RCV000477873.1,