rs755830520

Orientation

plus

Stabilized

plus

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

Make rs755830520(A;A)

Make rs755830520(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

53210280

Gene

CPT2

is a	snp
is	mentioned by
dbSNP	rs755830520
dbSNP (classic)	rs755830520
ClinGen	rs755830520
ebi	rs755830520
HLI	rs755830520
Exac	rs755830520
Gnomad	rs755830520
Varsome	rs755830520
LitVar	rs755830520
Map	rs755830520
PheGenI	rs755830520
Biobank	rs755830520
1000 genomes	rs755830520
hgdp	rs755830520
ensembl	rs755830520
geneview	rs755830520
scholar	rs755830520
google	rs755830520
pharmgkb	rs755830520
gwascentral	rs755830520
openSNP	rs755830520
23andMe	rs755830520
SNPshot	rs755830520
SNPdbe	rs755830520
MSV3d	rs755830520
GWAS Ctlg	rs755830520

Max Magnitude

0

ClinVar
Risk	rs755830520(A;A) rs755830520(C;C)
Alt	rs755830520(A;A) rs755830520(C;C)
Reference	Rs755830520(T;T)
Significance	Probable-Pathogenic
Disease	Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II deficiency
Variation	info
Gene	CPT2
CLNDBN	Carnitine palmitoyltransferase II deficiency, lethal neonatal Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced Carnitine palmitoyltransferase II deficiency, infantile
Reversed	0
HGVS	NC_000001.10:g.53675952T>A
CLNSRC
CLNACC	RCV000408985.1, RCV000410328.1, RCV000411376.1,