rs587779779

Orientation

plus

Stabilized

plus

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

Make rs587779779(C;T)

Make rs587779779(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

7631476

Gene	PCP2, PET100, XAB2

is a	snp
is	mentioned by
dbSNP	rs587779779
dbSNP (classic)	rs587779779
ClinGen	rs587779779
ebi	rs587779779
HLI	rs587779779
Exac	rs587779779
Gnomad	rs587779779
Varsome	rs587779779
LitVar	rs587779779
Map	rs587779779
PheGenI	rs587779779
Biobank	rs587779779
1000 genomes	rs587779779
hgdp	rs587779779
ensembl	rs587779779
geneview	rs587779779
scholar	rs587779779
google	rs587779779
pharmgkb	rs587779779
gwascentral	rs587779779
openSNP	rs587779779
23andMe	rs587779779
SNPshot	rs587779779
SNPdbe	rs587779779
MSV3d	rs587779779
GWAS Ctlg	rs587779779

Max Magnitude

0

ClinVar
Risk	rs587779779(T;T)
Alt	rs587779779(T;T)
Reference	Rs587779779(C;C)
Significance	Pathogenic
Disease	Congenital lactic acidosis Cytochrome-c oxidase deficiency
Variation	info
Gene	PCP2 PET100 XAB2
CLNDBN	Congenital lactic acidosis Cytochrome-c oxidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7696362C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000144455.1, RCV000240821.2,