rs113994146

Orientation

minus

Stabilized

minus

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

Make rs113994146(A;A)

Make rs113994146(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

66851149

Gene

PC

is a	snp
is	mentioned by
dbSNP	rs113994146
dbSNP (classic)	rs113994146
ClinGen	rs113994146
ebi	rs113994146
HLI	rs113994146
Exac	rs113994146
Gnomad	rs113994146
Varsome	rs113994146
LitVar	rs113994146
Map	rs113994146
PheGenI	rs113994146
Biobank	rs113994146
1000 genomes	rs113994146
hgdp	rs113994146
ensembl	rs113994146
geneview	rs113994146
scholar	rs113994146
google	rs113994146
pharmgkb	rs113994146
gwascentral	rs113994146
openSNP	rs113994146
23andMe	rs113994146
SNPshot	rs113994146
SNPdbe	rs113994146
MSV3d	rs113994146
GWAS Ctlg	rs113994146

Max Magnitude

0

ClinVar
Risk	rs113994146(A;A)
Alt	rs113994146(A;A)
Reference	Rs113994146(C;C)
Significance	Pathogenic
Disease	Pyruvate carboxylase deficiency
Variation	info
Gene	PC
CLNDBN	Pyruvate carboxylase deficiency
Reversed	1
HGVS	NC_000011.9:g.66618620G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020385.2,