rs386833608

Orientation

minus

Stabilized

minus

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

Make rs386833608(A;G)

Make rs386833608(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124408639

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833608
dbSNP (classic)	rs386833608
ClinGen	rs386833608
ebi	rs386833608
HLI	rs386833608
Exac	rs386833608
Gnomad	rs386833608
Varsome	rs386833608
LitVar	rs386833608
Map	rs386833608
PheGenI	rs386833608
Biobank	rs386833608
1000 genomes	rs386833608
hgdp	rs386833608
ensembl	rs386833608
geneview	rs386833608
scholar	rs386833608
google	rs386833608
pharmgkb	rs386833608
gwascentral	rs386833608
openSNP	rs386833608
23andMe	rs386833608
SNPshot	rs386833608
SNPdbe	rs386833608
MSV3d	rs386833608
GWAS Ctlg	rs386833608

Max Magnitude

0

ClinVar
Risk	rs386833608(G;G)
Alt	rs386833608(G;G)
Reference	Rs386833608(A;A)
Significance	Probable-Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126097208T>C
CLNSRC	ClinVar
CLNACC	RCV000049535.1,

[PMID 1487247] A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.