rs386833601

Orientation

minus

Stabilized

minus

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

Make rs386833601(C;G)

Make rs386833601(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124411670

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs386833601
dbSNP (classic)	rs386833601
ClinGen	rs386833601
ebi	rs386833601
HLI	rs386833601
Exac	rs386833601
Gnomad	rs386833601
Varsome	rs386833601
LitVar	rs386833601
Map	rs386833601
PheGenI	rs386833601
Biobank	rs386833601
1000 genomes	rs386833601
hgdp	rs386833601
ensembl	rs386833601
geneview	rs386833601
scholar	rs386833601
google	rs386833601
pharmgkb	rs386833601
gwascentral	rs386833601
openSNP	rs386833601
23andMe	rs386833601
SNPshot	rs386833601
SNPdbe	rs386833601
MSV3d	rs386833601
GWAS Ctlg	rs386833601

Max Magnitude

0

ClinVar
Risk	rs386833601(G;G)
Alt	rs386833601(G;G)
Reference	Rs386833601(C;C)
Significance	Probable-Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126100239G>C
CLNSRC	ClinVar
CLNACC	RCV000049528.1,

[PMID 1992472] Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.