rs386833604

Orientation

minus

Stabilized

minus

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

Make rs386833604(A;G)

Make rs386833604(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124408854

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833604
dbSNP (classic)	rs386833604
ClinGen	rs386833604
ebi	rs386833604
HLI	rs386833604
Exac	rs386833604
Gnomad	rs386833604
Varsome	rs386833604
LitVar	rs386833604
Map	rs386833604
PheGenI	rs386833604
Biobank	rs386833604
1000 genomes	rs386833604
hgdp	rs386833604
ensembl	rs386833604
geneview	rs386833604
scholar	rs386833604
google	rs386833604
pharmgkb	rs386833604
gwascentral	rs386833604
openSNP	rs386833604
23andMe	rs386833604
SNPshot	rs386833604
SNPdbe	rs386833604
MSV3d	rs386833604
GWAS Ctlg	rs386833604

Max Magnitude

0

ClinVar
Risk	rs386833604(G;G)
Alt	rs386833604(G;G)
Reference	Rs386833604(A;A)
Significance	Probable-Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126097423T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049531.1,

[PMID 23076989] Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.