rs730882239

Orientation

plus

Stabilized

plus

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

Make rs730882239(-;A)

Make rs730882239(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

226986537

Gene	ADCK3, COQ8A

is a	snp
is	mentioned by
dbSNP	rs730882239
dbSNP (classic)	rs730882239
ClinGen	rs730882239
ebi	rs730882239
HLI	rs730882239
Exac	rs730882239
Gnomad	rs730882239
Varsome	rs730882239
LitVar	rs730882239
Map	rs730882239
PheGenI	rs730882239
Biobank	rs730882239
1000 genomes	rs730882239
hgdp	rs730882239
ensembl	rs730882239
geneview	rs730882239
scholar	rs730882239
google	rs730882239
pharmgkb	rs730882239
gwascentral	rs730882239
openSNP	rs730882239
23andMe	rs730882239
SNPshot	rs730882239
SNPdbe	rs730882239
MSV3d	rs730882239
GWAS Ctlg	rs730882239

Max Magnitude

0

ClinVar
Risk	rs730882239(A;A)
Alt	rs730882239(A;A)
Reference	Rs730882239(-;-)
Significance	Probable-Pathogenic
Disease	Ataxia Cerebellar atrophy Dysdiadochokinesis Dysmetria Nystagmus Slightly reduced reflexes Slurred speech
Variation	info
Gene	COQ8A ADCK3
CLNDBN	Ataxia Cerebellar atrophy Dysdiadochokinesis Dysmetria Nystagmus Slightly reduced reflexes Slurred speech
Reversed	0
HGVS	NC_000001.10:g.227174238dupA
CLNSRC	King Faisal Specialist Hospital and Research Center
CLNACC	RCV000162171.1,