rs1057519354

Orientation

plus

Stabilized

plus

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

Make rs1057519354(A;C)

Make rs1057519354(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

26746333

Gene	ABI1, PDSS1

is a	snp
is	mentioned by
dbSNP	rs1057519354
dbSNP (classic)	rs1057519354
ClinGen	rs1057519354
ebi	rs1057519354
HLI	rs1057519354
Exac	rs1057519354
Gnomad	rs1057519354
Varsome	rs1057519354
LitVar	rs1057519354
Map	rs1057519354
PheGenI	rs1057519354
Biobank	rs1057519354
1000 genomes	rs1057519354
hgdp	rs1057519354
ensembl	rs1057519354
geneview	rs1057519354
scholar	rs1057519354
google	rs1057519354
pharmgkb	rs1057519354
gwascentral	rs1057519354
openSNP	rs1057519354
23andMe	rs1057519354
SNPshot	rs1057519354
SNPdbe	rs1057519354
MSV3d	rs1057519354
GWAS Ctlg	rs1057519354

Max Magnitude

0

ClinVar
Risk	rs1057519354(C;C)
Alt	rs1057519354(C;C)
Reference	Rs1057519354(A;A)
Significance	Pathogenic
Disease	Coenzyme Q10 deficiency
Variation	info
Gene	PDSS1 ABI1
CLNDBN	Coenzyme Q10 deficiency, primary, 2
Reversed	0
HGVS	NC_000010.10:g.27035262A>C
CLNSRC
CLNACC	RCV000416401.1,