rs1057516800

Orientation

minus

Stabilized

minus

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

Make rs1057516800(-;AAAA)

Make rs1057516800(AAAA;AAAA)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

68761565

Gene

CPT1A

is a	snp
is	mentioned by
dbSNP	rs1057516800
dbSNP (classic)	rs1057516800
ClinGen	rs1057516800
ebi	rs1057516800
HLI	rs1057516800
Exac	rs1057516800
Gnomad	rs1057516800
Varsome	rs1057516800
LitVar	rs1057516800
Map	rs1057516800
PheGenI	rs1057516800
Biobank	rs1057516800
1000 genomes	rs1057516800
hgdp	rs1057516800
ensembl	rs1057516800
geneview	rs1057516800
scholar	rs1057516800
google	rs1057516800
pharmgkb	rs1057516800
gwascentral	rs1057516800
openSNP	rs1057516800
23andMe	rs1057516800
SNPshot	rs1057516800
SNPdbe	rs1057516800
MSV3d	rs1057516800
GWAS Ctlg	rs1057516800

Max Magnitude

0

ClinVar
Risk	rs1057516800(AAAA;AAAA)
Alt	rs1057516800(AAAA;AAAA)
Reference	Rs1057516800(-;-)
Significance	Probable-Pathogenic
Disease	Carnitine palmitoyltransferase I deficiency
Variation	info
Gene	CPT1A
CLNDBN	Carnitine palmitoyltransferase I deficiency
Reversed	1
HGVS	NC_000011.9:g.68529033_68529034insTTTT
CLNSRC
CLNACC	RCV000409196.1,