rs398123153

Merged into

rs397509431

Orientation

plus

Stabilized

plus

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

Make rs398123153(-;-)

Make rs398123153(-;GA)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53210913

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs398123153
dbSNP (classic)	rs398123153
ClinGen	rs398123153
ebi	rs398123153
HLI	rs398123153
Exac	rs398123153
Gnomad	rs398123153
Varsome	rs398123153
LitVar	rs398123153
Map	rs398123153
PheGenI	rs398123153
Biobank	rs398123153
1000 genomes	rs398123153
hgdp	rs398123153
ensembl	rs398123153
geneview	rs398123153
scholar	rs398123153
google	rs398123153
pharmgkb	rs398123153
gwascentral	rs398123153
openSNP	rs398123153
23andMe	rs398123153
SNPshot	rs398123153
SNPdbe	rs398123153
MSV3d	rs398123153
GWAS Ctlg	rs398123153

Status

Merged into rs397509431

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs398123153(AG;AG)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase II deficiency not provided Carnitine palmitoyltransferase II deficiency
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency, late-onset not provided Carnitine palmitoyltransferase II deficiency
Reversed	0
HGVS	NC_000001.10:g.53676585_53676586delGA
CLNSRC	HGMD
CLNACC	RCV000009520.2, RCV000078117.4, RCV000185837.2, RCV000202516.1, RCV000202553.1,