rs386833600

Orientation

minus

Stabilized

minus

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

Make rs386833600(-;-)

Make rs386833600(-;AG)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124411979

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833600
dbSNP (classic)	rs386833600
ClinGen	rs386833600
ebi	rs386833600
HLI	rs386833600
Exac	rs386833600
Gnomad	rs386833600
Varsome	rs386833600
LitVar	rs386833600
Map	rs386833600
PheGenI	rs386833600
Biobank	rs386833600
1000 genomes	rs386833600
hgdp	rs386833600
ensembl	rs386833600
geneview	rs386833600
scholar	rs386833600
google	rs386833600
pharmgkb	rs386833600
gwascentral	rs386833600
openSNP	rs386833600
23andMe	rs386833600
SNPshot	rs386833600
SNPdbe	rs386833600
MSV3d	rs386833600
GWAS Ctlg	rs386833600

Max Magnitude

0

ClinVar
Risk	rs386833600(-;-)
Alt	rs386833600(-;-)
Reference	Rs386833600(AG;AG)
Significance	Other
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126100548_126100549delCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000201.4,

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