rs121965042

Orientation

minus

Stabilized

minus

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

Make rs121965042(A;A)

Make rs121965042(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

124403015

Gene

OAT

is a	snp
is	mentioned by
dbSNP	rs121965042
dbSNP (classic)	rs121965042
ClinGen	rs121965042
ebi	rs121965042
HLI	rs121965042
Exac	rs121965042
Gnomad	rs121965042
Varsome	rs121965042
LitVar	rs121965042
Map	rs121965042
PheGenI	rs121965042
Biobank	rs121965042
1000 genomes	rs121965042
hgdp	rs121965042
ensembl	rs121965042
geneview	rs121965042
scholar	rs121965042
google	rs121965042
pharmgkb	rs121965042
gwascentral	rs121965042
openSNP	rs121965042
23andMe	rs121965042
SNPshot	rs121965042
SNPdbe	rs121965042
MSV3d	rs121965042
GWAS Ctlg	rs121965042

Max Magnitude

0

OMIM	613349
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121965042(A;A)
Alt	rs121965042(A;A)
Reference	Rs121965042(G;G)
Significance	Pathogenic
Disease	Ornithine aminotransferase deficiency
Variation	info
Gene	OAT
CLNDBN	Ornithine aminotransferase deficiency
Reversed	1
HGVS	NC_000010.10:g.126091584C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000178.3,