rs199474822

Orientation

plus

Stabilized

plus

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

Make rs199474822(A;A)

Make rs199474822(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

7444

Gene

COX1

is a	snp
is	mentioned by
dbSNP	rs199474822
dbSNP (classic)	rs199474822
ClinGen	rs199474822
ebi	rs199474822
HLI	rs199474822
Exac	rs199474822
Gnomad	rs199474822
Varsome	rs199474822
LitVar	rs199474822
Map	rs199474822
PheGenI	rs199474822
Biobank	rs199474822
1000 genomes	rs199474822
hgdp	rs199474822
ensembl	rs199474822
geneview	rs199474822
scholar	rs199474822
google	rs199474822
pharmgkb	rs199474822
gwascentral	rs199474822
openSNP	rs199474822
23andMe	rs199474822
SNPshot	rs199474822
SNPdbe	rs199474822
MSV3d	rs199474822
GWAS Ctlg	rs199474822

GMAF

0.002806

Max Magnitude

0

ClinVar
Risk	rs199474822(A;A)
Alt	rs199474822(A;A)
Reference	Rs199474822(G;G)
Significance	Pathogenic
Disease	Leber's optic atrophy Aminoglycoside-induced deafness Deafness
Variation	info
Gene	COX1
CLNDBN	Leber's optic atrophy Aminoglycoside-induced deafness Deafness, nonsyndromic sensorineural, mitochondrial
Reversed	0
HGVS	NC_012920.1:m.7444G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010299.4, RCV000010300.3, RCV000010301.2,