rs386833606

Orientation

minus

Stabilized

minus

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

Make rs386833606(-;-)

Make rs386833606(-;GAG)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124408790

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833606
dbSNP (classic)	rs386833606
ClinGen	rs386833606
ebi	rs386833606
HLI	rs386833606
Exac	rs386833606
Gnomad	rs386833606
Varsome	rs386833606
LitVar	rs386833606
Map	rs386833606
PheGenI	rs386833606
Biobank	rs386833606
1000 genomes	rs386833606
hgdp	rs386833606
ensembl	rs386833606
geneview	rs386833606
scholar	rs386833606
google	rs386833606
pharmgkb	rs386833606
gwascentral	rs386833606
openSNP	rs386833606
23andMe	rs386833606
SNPshot	rs386833606
SNPdbe	rs386833606
MSV3d	rs386833606
GWAS Ctlg	rs386833606

Max Magnitude

0

ClinVar
Risk	rs386833606(-;-)
Alt	rs386833606(-;-)
Reference	Rs386833606(GAG;GAG)
Significance	Probable-Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126097359_126097361delCTC
CLNSRC	ClinVar
CLNACC	RCV000049533.1,

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