rs113994142

Orientation

minus

Stabilized

minus

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

Make rs113994142(A;A)

Make rs113994142(A;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

66870409

Gene

PC

is a	snp
is	mentioned by
dbSNP	rs113994142
dbSNP (classic)	rs113994142
ClinGen	rs113994142
ebi	rs113994142
HLI	rs113994142
Exac	rs113994142
Gnomad	rs113994142
Varsome	rs113994142
LitVar	rs113994142
Map	rs113994142
PheGenI	rs113994142
Biobank	rs113994142
1000 genomes	rs113994142
hgdp	rs113994142
ensembl	rs113994142
geneview	rs113994142
scholar	rs113994142
google	rs113994142
pharmgkb	rs113994142
gwascentral	rs113994142
openSNP	rs113994142
23andMe	rs113994142
SNPshot	rs113994142
SNPdbe	rs113994142
MSV3d	rs113994142
GWAS Ctlg	rs113994142

Max Magnitude

0

ClinVar
Risk	rs113994142(A;A) rs113994142(C;C) rs113994142(G;G)
Alt	rs113994142(A;A) rs113994142(C;C) rs113994142(G;G)
Reference	Rs113994142(T;T)
Significance	Pathogenic
Disease	not provided Pyruvate carboxylase deficiency
Variation	info
Gene	PC
CLNDBN	not provided Pyruvate carboxylase deficiency
Reversed	1
HGVS	NC_000011.9:g.66637880A>C; NC_000011.9:g.66637880A>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000431389.1, RCV000020392.2,