rs199476136

Orientation

plus

Stabilized

plus

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

Make rs199476136(C;C)

Make rs199476136(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

8851

Gene

ATP6

is a	snp
is	mentioned by
dbSNP	rs199476136
dbSNP (classic)	rs199476136
ClinGen	rs199476136
ebi	rs199476136
HLI	rs199476136
Exac	rs199476136
Gnomad	rs199476136
Varsome	rs199476136
LitVar	rs199476136
Map	rs199476136
PheGenI	rs199476136
Biobank	rs199476136
1000 genomes	rs199476136
hgdp	rs199476136
ensembl	rs199476136
geneview	rs199476136
scholar	rs199476136
google	rs199476136
pharmgkb	rs199476136
gwascentral	rs199476136
openSNP	rs199476136
23andMe	rs199476136
SNPshot	rs199476136
SNPdbe	rs199476136
MSV3d	rs199476136
GWAS Ctlg	rs199476136

Max Magnitude

0

ClinVar
Risk	rs199476136(C;C)
Alt	rs199476136(C;C)
Reference	Rs199476136(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.8851T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010280.6, RCV000144005.2,