rs386833609

Orientation

minus

Stabilized

minus

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

Make rs386833609(-;-)

Make rs386833609(-;GATAGGAGT)

Make rs386833609(GATAGGAGT;GATAGGAGT)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124408634

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833609
dbSNP (classic)	rs386833609
ClinGen	rs386833609
ebi	rs386833609
HLI	rs386833609
Exac	rs386833609
Gnomad	rs386833609
Varsome	rs386833609
LitVar	rs386833609
Map	rs386833609
PheGenI	rs386833609
Biobank	rs386833609
1000 genomes	rs386833609
hgdp	rs386833609
ensembl	rs386833609
geneview	rs386833609
scholar	rs386833609
google	rs386833609
pharmgkb	rs386833609
gwascentral	rs386833609
openSNP	rs386833609
23andMe	rs386833609
SNPshot	rs386833609
SNPdbe	rs386833609
MSV3d	rs386833609
GWAS Ctlg	rs386833609

Max Magnitude

0

ClinVar
Risk	Rs386833609(ATAGGAGTG;ATAGGAGTG) rs386833609(-;-)
Alt	Rs386833609(ATAGGAGTG;ATAGGAGTG) rs386833609(-;-)
Reference	rs386833609(GATAGGAGT;GATAGGAGT)
Significance	Other
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126097203_126097211delACTCCTATC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000188.3,

[PMID 2220818] Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.