rs1057517188

Orientation

minus

Stabilized

minus

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

Make rs1057517188(A;A)

Make rs1057517188(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

68807639

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs1057517188
dbSNP (classic)	rs1057517188
ClinGen	rs1057517188
ebi	rs1057517188
HLI	rs1057517188
Exac	rs1057517188
Gnomad	rs1057517188
Varsome	rs1057517188
LitVar	rs1057517188
Map	rs1057517188
PheGenI	rs1057517188
Biobank	rs1057517188
1000 genomes	rs1057517188
hgdp	rs1057517188
ensembl	rs1057517188
geneview	rs1057517188
scholar	rs1057517188
google	rs1057517188
pharmgkb	rs1057517188
gwascentral	rs1057517188
openSNP	rs1057517188
23andMe	rs1057517188
SNPshot	rs1057517188
SNPdbe	rs1057517188
MSV3d	rs1057517188
GWAS Ctlg	rs1057517188

Max Magnitude

0

ClinVar
Risk	rs1057517188(A;A)
Alt	rs1057517188(A;A)
Reference	Rs1057517188(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.68575107C>T
CLNSRC
CLNACC	RCV000412419.1,