rs1057516434

Orientation

minus

Stabilized

minus

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

Make rs1057516434(A;A)

Make rs1057516434(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

68812532

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs1057516434
dbSNP (classic)	rs1057516434
ClinGen	rs1057516434
ebi	rs1057516434
HLI	rs1057516434
Exac	rs1057516434
Gnomad	rs1057516434
Varsome	rs1057516434
LitVar	rs1057516434
Map	rs1057516434
PheGenI	rs1057516434
Biobank	rs1057516434
1000 genomes	rs1057516434
hgdp	rs1057516434
ensembl	rs1057516434
geneview	rs1057516434
scholar	rs1057516434
google	rs1057516434
pharmgkb	rs1057516434
gwascentral	rs1057516434
openSNP	rs1057516434
23andMe	rs1057516434
SNPshot	rs1057516434
SNPdbe	rs1057516434
MSV3d	rs1057516434
GWAS Ctlg	rs1057516434

Max Magnitude

0

ClinVar
Risk	rs1057516434(A;A)
Alt	rs1057516434(A;A)
Reference	Rs1057516434(G;G)
Significance	Probable-Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68580000C>T
CLNSRC
CLNACC	RCV000409874.1,