rs28940591

Orientation

minus

Stabilized

minus

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

Make rs28940591(C;C)

Make rs28940591(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

66871368

Gene

PC

is a	snp
is	mentioned by
dbSNP	rs28940591
dbSNP (classic)	rs28940591
ClinGen	rs28940591
ebi	rs28940591
HLI	rs28940591
Exac	rs28940591
Gnomad	rs28940591
Varsome	rs28940591
LitVar	rs28940591
Map	rs28940591
PheGenI	rs28940591
Biobank	rs28940591
1000 genomes	rs28940591
hgdp	rs28940591
ensembl	rs28940591
geneview	rs28940591
scholar	rs28940591
google	rs28940591
pharmgkb	rs28940591
gwascentral	rs28940591
openSNP	rs28940591
23andMe	rs28940591
SNPshot	rs28940591
SNPdbe	rs28940591
MSV3d	rs28940591
GWAS Ctlg	rs28940591

Max Magnitude

0

OMIM	608786
Desc	PYRUVATE CARBOXYLASE DEFICIENCY
Variant	0003
Related	also

?	(C;T) (T;T)

ClinVar
Risk	rs28940591(C;C) rs28940591(G;G)
Alt	rs28940591(C;C) rs28940591(G;G)
Reference	Rs28940591(T;T)
Significance	Pathogenic
Disease	Pyruvate carboxylase deficiency
Variation	info
Gene	PC
CLNDBN	Pyruvate carboxylase deficiency
Reversed	1
HGVS	NC_000011.9:g.66638839A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002177.3,