rs397509431

Orientation

plus

Stabilized

plus

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

Make rs397509431(-;-)

Make rs397509431(-;AG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

53210912

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs397509431
dbSNP (classic)	rs397509431
ClinGen	rs397509431
ebi	rs397509431
HLI	rs397509431
Exac	rs397509431
Gnomad	rs397509431
Varsome	rs397509431
LitVar	rs397509431
Map	rs397509431
PheGenI	rs397509431
Biobank	rs397509431
1000 genomes	rs397509431
hgdp	rs397509431
ensembl	rs397509431
geneview	rs397509431
scholar	rs397509431
google	rs397509431
pharmgkb	rs397509431
gwascentral	rs397509431
openSNP	rs397509431
23andMe	rs397509431
SNPshot	rs397509431
SNPdbe	rs397509431
MSV3d	rs397509431
GWAS Ctlg	rs397509431

Merged from

Rs398123153

Max Magnitude

0

ClinVar
Risk	rs397509431(-;-) rs397509431(GA;GA)
Alt	rs397509431(-;-) rs397509431(GA;GA)
Reference	Rs397509431(AG;AG)
Significance	Pathogenic
Disease	Carnitine palmitoyltransferase II deficiency not provided Carnitine palmitoyltransferase II deficiency
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced not provided Carnitine palmitoyltransferase II deficiency
Reversed	0
HGVS	NC_000001.10:g.53676585_53676586delGA
CLNSRC	HGMD
CLNACC	RCV000078117.4, RCV000185837.2, RCV000202516.1, RCV000202553.1,