rs113994145

Orientation

minus

Stabilized

minus

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

Make rs113994145(A;A)

Make rs113994145(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

66851880

Gene

PC

is a	snp
is	mentioned by
dbSNP	rs113994145
dbSNP (classic)	rs113994145
ClinGen	rs113994145
ebi	rs113994145
HLI	rs113994145
Exac	rs113994145
Gnomad	rs113994145
Varsome	rs113994145
LitVar	rs113994145
Map	rs113994145
PheGenI	rs113994145
Biobank	rs113994145
1000 genomes	rs113994145
hgdp	rs113994145
ensembl	rs113994145
geneview	rs113994145
scholar	rs113994145
google	rs113994145
pharmgkb	rs113994145
gwascentral	rs113994145
openSNP	rs113994145
23andMe	rs113994145
SNPshot	rs113994145
SNPdbe	rs113994145
MSV3d	rs113994145
GWAS Ctlg	rs113994145

Max Magnitude

0

ClinVar
Risk	rs113994145(A;A)
Alt	rs113994145(A;A)
Reference	Rs113994145(G;G)
Significance	Pathogenic
Disease	Pyruvate carboxylase deficiency not provided
Variation	info
Gene	PC
CLNDBN	Pyruvate carboxylase deficiency not provided
Reversed	1
HGVS	NC_000011.9:g.66619351C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020384.2, RCV000484861.1,