rs386833610

Orientation

minus

Stabilized

minus

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

Make rs386833610(A;A)

Make rs386833610(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124408637

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833610
dbSNP (classic)	rs386833610
ClinGen	rs386833610
ebi	rs386833610
HLI	rs386833610
Exac	rs386833610
Gnomad	rs386833610
Varsome	rs386833610
LitVar	rs386833610
Map	rs386833610
PheGenI	rs386833610
Biobank	rs386833610
1000 genomes	rs386833610
hgdp	rs386833610
ensembl	rs386833610
geneview	rs386833610
scholar	rs386833610
google	rs386833610
pharmgkb	rs386833610
gwascentral	rs386833610
openSNP	rs386833610
23andMe	rs386833610
SNPshot	rs386833610
SNPdbe	rs386833610
MSV3d	rs386833610
GWAS Ctlg	rs386833610

Max Magnitude

0

ClinVar
Risk	rs386833610(A;A)
Alt	rs386833610(A;A)
Reference	Rs386833610(G;G)
Significance	Probable-Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126097206C>T
CLNSRC	ClinVar
CLNACC	RCV000049537.1,

[PMID 8670789] Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.