rs386833616

Orientation

minus

Stabilized

minus

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

Make rs386833616(A;A)

Make rs386833616(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124403859

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833616
dbSNP (classic)	rs386833616
ClinGen	rs386833616
ebi	rs386833616
HLI	rs386833616
Exac	rs386833616
Gnomad	rs386833616
Varsome	rs386833616
LitVar	rs386833616
Map	rs386833616
PheGenI	rs386833616
Biobank	rs386833616
1000 genomes	rs386833616
hgdp	rs386833616
ensembl	rs386833616
geneview	rs386833616
scholar	rs386833616
google	rs386833616
pharmgkb	rs386833616
gwascentral	rs386833616
openSNP	rs386833616
23andMe	rs386833616
SNPshot	rs386833616
SNPdbe	rs386833616
MSV3d	rs386833616
GWAS Ctlg	rs386833616

Max Magnitude

0

ClinVar
Risk	rs386833616(A;A)
Alt	rs386833616(A;A)
Reference	Rs386833616(G;G)
Significance	Probable-Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126092428C>T
CLNSRC	ClinVar
CLNACC	RCV000049543.1,

[PMID 15750329] Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.