rs121908532

Orientation

minus

Stabilized

minus

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 38.1/141

Chromosome

7

Position

96121733

Gene

SLC25A13

is a	snp
is	mentioned by
dbSNP	rs121908532
dbSNP (classic)	rs121908532
ClinGen	rs121908532
ebi	rs121908532
HLI	rs121908532
Exac	rs121908532
Gnomad	rs121908532
Varsome	rs121908532
LitVar	rs121908532
Map	rs121908532
PheGenI	rs121908532
Biobank	rs121908532
1000 genomes	rs121908532
hgdp	rs121908532
ensembl	rs121908532
geneview	rs121908532
scholar	rs121908532
google	rs121908532
pharmgkb	rs121908532
gwascentral	rs121908532
openSNP	rs121908532
23andMe	rs121908532
SNPshot	rs121908532
SNPdbe	rs121908532
MSV3d	rs121908532
GWAS Ctlg	rs121908532

Max Magnitude

5.7

SLC25A13 gene, c.1763G>A (p.Arg588Gln)

23andMe name: i5007232

OMIM	603859
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs121908532(A;A)
Alt	Rs121908532(A;A)
Reference	Rs121908532(G;G)
Significance	Pathogenic
Disease	Citrullinemia type II
Variation	info
Gene	SLC25A13
CLNDBN	Citrullinemia type II
Reversed	1
HGVS	NC_000007.13:g.95751045C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006376.4,