rs113994141

Orientation

minus

Stabilized

minus

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

Make rs113994141(C;T)

Make rs113994141(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

66871824

Gene

PC

is a	snp
is	mentioned by
dbSNP	rs113994141
dbSNP (classic)	rs113994141
ClinGen	rs113994141
ebi	rs113994141
HLI	rs113994141
Exac	rs113994141
Gnomad	rs113994141
Varsome	rs113994141
LitVar	rs113994141
Map	rs113994141
PheGenI	rs113994141
Biobank	rs113994141
1000 genomes	rs113994141
hgdp	rs113994141
ensembl	rs113994141
geneview	rs113994141
scholar	rs113994141
google	rs113994141
pharmgkb	rs113994141
gwascentral	rs113994141
openSNP	rs113994141
23andMe	rs113994141
SNPshot	rs113994141
SNPdbe	rs113994141
MSV3d	rs113994141
GWAS Ctlg	rs113994141

Max Magnitude

0

ClinVar
Risk	rs113994141(T;T)
Alt	rs113994141(T;T)
Reference	Rs113994141(C;C)
Significance	Pathogenic
Disease	Pyruvate carboxylase deficiency
Variation	info
Gene	PC
CLNDBN	Pyruvate carboxylase deficiency
Reversed	1
HGVS	NC_000011.9:g.66639295G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020383.2,