rs587776960

Orientation

plus

Stabilized

plus

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

Make rs587776960(A;A)

Make rs587776960(A;G)

Reference

GRCh38 38.1/142

Chromosome

18

Position

46087199

Gene

ATP5A1

is a	snp
is	mentioned by
dbSNP	rs587776960
dbSNP (classic)	rs587776960
ClinGen	rs587776960
ebi	rs587776960
HLI	rs587776960
Exac	rs587776960
Gnomad	rs587776960
Varsome	rs587776960
LitVar	rs587776960
Map	rs587776960
PheGenI	rs587776960
Biobank	rs587776960
1000 genomes	rs587776960
hgdp	rs587776960
ensembl	rs587776960
geneview	rs587776960
scholar	rs587776960
google	rs587776960
pharmgkb	rs587776960
gwascentral	rs587776960
openSNP	rs587776960
23andMe	rs587776960
SNPshot	rs587776960
SNPdbe	rs587776960
MSV3d	rs587776960
GWAS Ctlg	rs587776960

Max Magnitude

0

ClinVar
Risk	rs587776960(A;A)
Alt	rs587776960(A;A)
Reference	Rs587776960(G;G)
Significance	Pathogenic
Disease	Mitochondrial complex v (atp synthase) deficiency
Variation	info
Gene	ATP5A1
CLNDBN	Mitochondrial complex v (atp synthase) deficiency, nuclear type 4
Reversed	0
HGVS	NC_000018.9:g.43667165G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043508.26,