rs386833603

Orientation

minus

Stabilized

minus

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

Make rs386833603(A;A)

Make rs386833603(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124408893

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833603
dbSNP (classic)	rs386833603
ClinGen	rs386833603
ebi	rs386833603
HLI	rs386833603
Exac	rs386833603
Gnomad	rs386833603
Varsome	rs386833603
LitVar	rs386833603
Map	rs386833603
PheGenI	rs386833603
Biobank	rs386833603
1000 genomes	rs386833603
hgdp	rs386833603
ensembl	rs386833603
geneview	rs386833603
scholar	rs386833603
google	rs386833603
pharmgkb	rs386833603
gwascentral	rs386833603
openSNP	rs386833603
23andMe	rs386833603
SNPshot	rs386833603
SNPdbe	rs386833603
MSV3d	rs386833603
GWAS Ctlg	rs386833603

Max Magnitude

0

ClinVar
Risk	rs386833603(A;A)
Alt	rs386833603(A;A)
Reference	Rs386833603(G;G)
Significance	Probable-Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126097462C>T
CLNSRC	ClinVar
CLNACC	RCV000049530.1,

[PMID 22182799] Retinal structure, function, and molecular pathologic features in gyrate atrophy.