rs1057519353

Orientation

plus

Stabilized

plus

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

Make rs1057519353(-;T)

Make rs1057519353(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

26723857

Gene

PDSS1

is a	snp
is	mentioned by
dbSNP	rs1057519353
dbSNP (classic)	rs1057519353
ClinGen	rs1057519353
ebi	rs1057519353
HLI	rs1057519353
Exac	rs1057519353
Gnomad	rs1057519353
Varsome	rs1057519353
LitVar	rs1057519353
Map	rs1057519353
PheGenI	rs1057519353
Biobank	rs1057519353
1000 genomes	rs1057519353
hgdp	rs1057519353
ensembl	rs1057519353
geneview	rs1057519353
scholar	rs1057519353
google	rs1057519353
pharmgkb	rs1057519353
gwascentral	rs1057519353
openSNP	rs1057519353
23andMe	rs1057519353
SNPshot	rs1057519353
SNPdbe	rs1057519353
MSV3d	rs1057519353
GWAS Ctlg	rs1057519353

Max Magnitude

0

ClinVar
Risk	rs1057519353(T;T)
Alt	rs1057519353(T;T)
Reference	Rs1057519353(-;-)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	PDSS1
CLNDBN	Coenzyme Q10 deficiency, primary, 2
Reversed	0
HGVS	NC_000010.10:g.27012786_27012787insT
CLNSRC
CLNACC	RCV000416390.1,