rs199476134

Orientation

plus

Stabilized

plus

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

Make rs199476134(C;C)

Make rs199476134(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

9101

Gene

ATP6

is a	snp
is	mentioned by
dbSNP	rs199476134
dbSNP (classic)	rs199476134
ClinGen	rs199476134
ebi	rs199476134
HLI	rs199476134
Exac	rs199476134
Gnomad	rs199476134
Varsome	rs199476134
LitVar	rs199476134
Map	rs199476134
PheGenI	rs199476134
Biobank	rs199476134
1000 genomes	rs199476134
hgdp	rs199476134
ensembl	rs199476134
geneview	rs199476134
scholar	rs199476134
google	rs199476134
pharmgkb	rs199476134
gwascentral	rs199476134
openSNP	rs199476134
23andMe	rs199476134
SNPshot	rs199476134
SNPdbe	rs199476134
MSV3d	rs199476134
GWAS Ctlg	rs199476134

GMAF

0.0009355

Max Magnitude

0

ClinVar
Risk	rs199476134(C;C)
Alt	rs199476134(C;C)
Reference	Rs199476134(T;T)
Significance	Pathogenic
Disease	Leber's optic atrophy
Variation	info
Gene	ATP6
CLNDBN	Leber's optic atrophy
Reversed	0
HGVS	NC_012920.1:m.9101T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010277.2,