rs113994144

Orientation

minus

Stabilized

minus

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

Make rs113994144(A;G)

Make rs113994144(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

66852559

Gene

PC

is a	snp
is	mentioned by
dbSNP	rs113994144
dbSNP (classic)	rs113994144
ClinGen	rs113994144
ebi	rs113994144
HLI	rs113994144
Exac	rs113994144
Gnomad	rs113994144
Varsome	rs113994144
LitVar	rs113994144
Map	rs113994144
PheGenI	rs113994144
Biobank	rs113994144
1000 genomes	rs113994144
hgdp	rs113994144
ensembl	rs113994144
geneview	rs113994144
scholar	rs113994144
google	rs113994144
pharmgkb	rs113994144
gwascentral	rs113994144
openSNP	rs113994144
23andMe	rs113994144
SNPshot	rs113994144
SNPdbe	rs113994144
MSV3d	rs113994144
GWAS Ctlg	rs113994144

Max Magnitude

0

ClinVar
Risk	rs113994144(G;G)
Alt	rs113994144(G;G)
Reference	Rs113994144(A;A)
Significance	Pathogenic
Disease	Pyruvate carboxylase deficiency
Variation	info
Gene	PC
CLNDBN	Pyruvate carboxylase deficiency
Reversed	1
HGVS	NC_000011.9:g.66620030T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020382.2,