rs386833595

Orientation

minus

Stabilized

minus

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

Make rs386833595(A;A)

Make rs386833595(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124400881

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833595
dbSNP (classic)	rs386833595
ClinGen	rs386833595
ebi	rs386833595
HLI	rs386833595
Exac	rs386833595
Gnomad	rs386833595
Varsome	rs386833595
LitVar	rs386833595
Map	rs386833595
PheGenI	rs386833595
Biobank	rs386833595
1000 genomes	rs386833595
hgdp	rs386833595
ensembl	rs386833595
geneview	rs386833595
scholar	rs386833595
google	rs386833595
pharmgkb	rs386833595
gwascentral	rs386833595
openSNP	rs386833595
23andMe	rs386833595
SNPshot	rs386833595
SNPdbe	rs386833595
MSV3d	rs386833595
GWAS Ctlg	rs386833595

Max Magnitude

0

ClinVar
Risk	rs386833595(A;A)
Alt	rs386833595(A;A)
Reference	Rs386833595(G;G)
Significance	Probable-Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126089450C>T
CLNSRC	ClinVar
CLNACC	RCV000049521.1,

[PMID 1609808] Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.