rs113994143

Orientation

minus

Stabilized

minus

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

Make rs113994143(C;T)

Make rs113994143(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

66863791

Gene

PC

is a	snp
is	mentioned by
dbSNP	rs113994143
dbSNP (classic)	rs113994143
ClinGen	rs113994143
ebi	rs113994143
HLI	rs113994143
Exac	rs113994143
Gnomad	rs113994143
Varsome	rs113994143
LitVar	rs113994143
Map	rs113994143
PheGenI	rs113994143
Biobank	rs113994143
1000 genomes	rs113994143
hgdp	rs113994143
ensembl	rs113994143
geneview	rs113994143
scholar	rs113994143
google	rs113994143
pharmgkb	rs113994143
gwascentral	rs113994143
openSNP	rs113994143
23andMe	rs113994143
SNPshot	rs113994143
SNPdbe	rs113994143
MSV3d	rs113994143
GWAS Ctlg	rs113994143

Max Magnitude

0

OMIM	608786
Desc
Variant	0004
Related	also

ClinVar
Risk	rs113994143(T;T)
Alt	rs113994143(T;T)
Reference	Rs113994143(C;C)
Significance	Pathogenic
Disease	Pyruvate carboxylase deficiency
Variation	info
Gene	PC
CLNDBN	Pyruvate carboxylase deficiency
Reversed	1
HGVS	NC_000011.9:g.66631262G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002178.2,