rs113994148

Orientation

minus

Stabilized

minus

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

Make rs113994148(-;-)

Make rs113994148(-;CT)

Reference

GRCh38 38.1/141

Chromosome

11

Position

66849026

Gene

PC

is a	snp
is	mentioned by
dbSNP	rs113994148
dbSNP (classic)	rs113994148
ClinGen	rs113994148
ebi	rs113994148
HLI	rs113994148
Exac	rs113994148
Gnomad	rs113994148
Varsome	rs113994148
LitVar	rs113994148
Map	rs113994148
PheGenI	rs113994148
Biobank	rs113994148
1000 genomes	rs113994148
hgdp	rs113994148
ensembl	rs113994148
geneview	rs113994148
scholar	rs113994148
google	rs113994148
pharmgkb	rs113994148
gwascentral	rs113994148
openSNP	rs113994148
23andMe	rs113994148
SNPshot	rs113994148
SNPdbe	rs113994148
MSV3d	rs113994148
GWAS Ctlg	rs113994148

Max Magnitude

0

ClinVar
Risk	rs113994148(-;-)
Alt	rs113994148(-;-)
Reference	Rs113994148(CT;CT)
Significance	Pathogenic
Disease	Pyruvate carboxylase deficiency
Variation	info
Gene	PC
CLNDBN	Pyruvate carboxylase deficiency
Reversed	1
HGVS	NC_000011.9:g.66616497_66616498delAG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020391.2,