rs199476135

Orientation

plus

Stabilized

plus

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

Make rs199476135(C;C)

Make rs199476135(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

9176

Gene

ATP6

is a	snp
is	mentioned by
dbSNP	rs199476135
dbSNP (classic)	rs199476135
ClinGen	rs199476135
ebi	rs199476135
HLI	rs199476135
Exac	rs199476135
Gnomad	rs199476135
Varsome	rs199476135
LitVar	rs199476135
Map	rs199476135
PheGenI	rs199476135
Biobank	rs199476135
1000 genomes	rs199476135
hgdp	rs199476135
ensembl	rs199476135
geneview	rs199476135
scholar	rs199476135
google	rs199476135
pharmgkb	rs199476135
gwascentral	rs199476135
openSNP	rs199476135
23andMe	rs199476135
SNPshot	rs199476135
SNPdbe	rs199476135
MSV3d	rs199476135
GWAS Ctlg	rs199476135

Max Magnitude

0

ClinVar
Risk	rs199476135(C;C) rs199476135(G;G)
Alt	rs199476135(C;C) rs199476135(G;G)
Reference	Rs199476135(T;T)
Significance	Pathogenic
Disease	Striatonigral degeneration Leigh syndrome
Variation	info
Gene	ATP6
CLNDBN	Striatonigral degeneration, infantile, mitochondrial Leigh syndrome
Reversed	0
HGVS	NC_012920.1:m.9176T>C; NC_012920.1:m.9176T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010278.4, RCV000010279.5, RCV000010285.5,