rs386833594

Orientation

minus

Stabilized

minus

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

Make rs386833594(-;-)

Make rs386833594(-;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124400968

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833594
dbSNP (classic)	rs386833594
ClinGen	rs386833594
ebi	rs386833594
HLI	rs386833594
Exac	rs386833594
Gnomad	rs386833594
Varsome	rs386833594
LitVar	rs386833594
Map	rs386833594
PheGenI	rs386833594
Biobank	rs386833594
1000 genomes	rs386833594
hgdp	rs386833594
ensembl	rs386833594
geneview	rs386833594
scholar	rs386833594
google	rs386833594
pharmgkb	rs386833594
gwascentral	rs386833594
openSNP	rs386833594
23andMe	rs386833594
SNPshot	rs386833594
SNPdbe	rs386833594
MSV3d	rs386833594
GWAS Ctlg	rs386833594

Max Magnitude

0

ClinVar
Risk	rs386833594(-;-)
Alt	rs386833594(-;-)
Reference	Rs386833594(A;A)
Significance	Probable-Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126089537delT
CLNSRC	ClinVar
CLNACC	RCV000049520.1,

[PMID 1737786] Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.