rs386833611

Orientation

minus

Stabilized

minus

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

Make rs386833611(-;-)

Make rs386833611(-;TATACCGTGAAGGGC)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124408576

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833611
dbSNP (classic)	rs386833611
ClinGen	rs386833611
ebi	rs386833611
HLI	rs386833611
Exac	rs386833611
Gnomad	rs386833611
Varsome	rs386833611
LitVar	rs386833611
Map	rs386833611
PheGenI	rs386833611
Biobank	rs386833611
1000 genomes	rs386833611
hgdp	rs386833611
ensembl	rs386833611
geneview	rs386833611
scholar	rs386833611
google	rs386833611
pharmgkb	rs386833611
gwascentral	rs386833611
openSNP	rs386833611
23andMe	rs386833611
SNPshot	rs386833611
SNPdbe	rs386833611
MSV3d	rs386833611
GWAS Ctlg	rs386833611

Max Magnitude

0

ClinVar
Risk	rs386833611(-;-)
Alt	rs386833611(-;-)
Reference	Rs386833611(TATACCGTGAAGGGC;TATACCGTGAAGGGC)
Significance	Probable-Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126097145_126097159delGCCCTTCACGGTATA
CLNSRC	ClinVar
CLNACC	RCV000049538.1,

[PMID 1301936] A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.