rs118203956

Orientation

minus

Stabilized

minus

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

Make rs118203956(C;T)

Make rs118203956(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

107154674

Gene

PDSS2

is a	snp
is	mentioned by
dbSNP	rs118203956
dbSNP (classic)	rs118203956
ClinGen	rs118203956
ebi	rs118203956
HLI	rs118203956
Exac	rs118203956
Gnomad	rs118203956
Varsome	rs118203956
LitVar	rs118203956
Map	rs118203956
PheGenI	rs118203956
Biobank	rs118203956
1000 genomes	rs118203956
hgdp	rs118203956
ensembl	rs118203956
geneview	rs118203956
scholar	rs118203956
google	rs118203956
pharmgkb	rs118203956
gwascentral	rs118203956
openSNP	rs118203956
23andMe	rs118203956
SNPshot	rs118203956
SNPdbe	rs118203956
MSV3d	rs118203956
GWAS Ctlg	rs118203956

Max Magnitude

0

OMIM	610564
Desc
Variant	0002
Related	also

ClinVar
Risk	rs118203956(T;T)
Alt	rs118203956(T;T)
Reference	Rs118203956(C;C)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	PDSS2
CLNDBN	Coenzyme Q10 deficiency, primary, 3
Reversed	1
HGVS	NC_000006.11:g.107475878G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001260.3,