rs28940590

Orientation

minus

Stabilized

minus

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

Make rs28940590(G;T)

Make rs28940590(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

66850918

Gene

PC

is a	snp
is	mentioned by
dbSNP	rs28940590
dbSNP (classic)	rs28940590
ClinGen	rs28940590
ebi	rs28940590
HLI	rs28940590
Exac	rs28940590
Gnomad	rs28940590
Varsome	rs28940590
LitVar	rs28940590
Map	rs28940590
PheGenI	rs28940590
Biobank	rs28940590
1000 genomes	rs28940590
hgdp	rs28940590
ensembl	rs28940590
geneview	rs28940590
scholar	rs28940590
google	rs28940590
pharmgkb	rs28940590
gwascentral	rs28940590
openSNP	rs28940590
23andMe	rs28940590
SNPshot	rs28940590
SNPdbe	rs28940590
MSV3d	rs28940590
GWAS Ctlg	rs28940590

Max Magnitude

0

OMIM	608786
Desc	PYRUVATE CARBOXYLASE DEFICIENCY
Variant	0002
Related	also

ClinVar
Risk	rs28940590(T;T)
Alt	rs28940590(T;T)
Reference	Rs28940590(G;G)
Significance	Pathogenic
Disease	Pyruvate carboxylase deficiency
Variation	info
Gene	PC
CLNDBN	Pyruvate carboxylase deficiency
Reversed	1
HGVS	NC_000011.9:g.66618389C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002176.3,