rs386833599

Orientation

minus

Stabilized

minus

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

Make rs386833599(-;-)

Make rs386833599(-;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124412013

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833599
dbSNP (classic)	rs386833599
ClinGen	rs386833599
ebi	rs386833599
HLI	rs386833599
Exac	rs386833599
Gnomad	rs386833599
Varsome	rs386833599
LitVar	rs386833599
Map	rs386833599
PheGenI	rs386833599
Biobank	rs386833599
1000 genomes	rs386833599
hgdp	rs386833599
ensembl	rs386833599
geneview	rs386833599
scholar	rs386833599
google	rs386833599
pharmgkb	rs386833599
gwascentral	rs386833599
openSNP	rs386833599
23andMe	rs386833599
SNPshot	rs386833599
SNPdbe	rs386833599
MSV3d	rs386833599
GWAS Ctlg	rs386833599

Max Magnitude

0

ClinVar
Risk	rs386833599(-;-)
Alt	rs386833599(-;-)
Reference	Rs386833599(C;C)
Significance	Other
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126100582delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000170.4,

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