rs386833617

Orientation

minus

Stabilized

minus

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

Make rs386833617(A;A)

Make rs386833617(A;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124403821

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833617
dbSNP (classic)	rs386833617
ClinGen	rs386833617
ebi	rs386833617
HLI	rs386833617
Exac	rs386833617
Gnomad	rs386833617
Varsome	rs386833617
LitVar	rs386833617
Map	rs386833617
PheGenI	rs386833617
Biobank	rs386833617
1000 genomes	rs386833617
hgdp	rs386833617
ensembl	rs386833617
geneview	rs386833617
scholar	rs386833617
google	rs386833617
pharmgkb	rs386833617
gwascentral	rs386833617
openSNP	rs386833617
23andMe	rs386833617
SNPshot	rs386833617
SNPdbe	rs386833617
MSV3d	rs386833617
GWAS Ctlg	rs386833617

Max Magnitude

0

ClinVar
Risk	rs386833617(A;A) rs386833617(T;T)
Alt	rs386833617(A;A) rs386833617(T;T)
Reference	Rs386833617(C;C)
Significance	Probable-Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126092390G>A
CLNSRC	ClinVar
CLNACC	RCV000049544.1,

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