rs199476133

Orientation

plus

Stabilized

plus

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

Make rs199476133(G;G)

Make rs199476133(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

8993

Gene

ATP6

is a	snp
is	mentioned by
dbSNP	rs199476133
dbSNP (classic)	rs199476133
ClinGen	rs199476133
ebi	rs199476133
HLI	rs199476133
Exac	rs199476133
Gnomad	rs199476133
Varsome	rs199476133
LitVar	rs199476133
Map	rs199476133
PheGenI	rs199476133
Biobank	rs199476133
1000 genomes	rs199476133
hgdp	rs199476133
ensembl	rs199476133
geneview	rs199476133
scholar	rs199476133
google	rs199476133
pharmgkb	rs199476133
gwascentral	rs199476133
openSNP	rs199476133
23andMe	rs199476133
SNPshot	rs199476133
SNPdbe	rs199476133
MSV3d	rs199476133
GWAS Ctlg	rs199476133

Max Magnitude

0

ClinVar
Risk	rs199476133(C;C) rs199476133(G;G)
Alt	rs199476133(C;C) rs199476133(G;G)
Reference	Rs199476133(T;T)
Significance	Pathogenic
Disease	Leigh syndrome Ataxia and polyneuropathy Neuropathy ataxia retinitis pigmentosa syndrome Ataxia not provided Bilateral cleft lip and palate Camptodactyly of finger Hypertelorism Low-set ears Postaxial hand polydactyly Premature birth Scrotal hypoplasia Wide intermamillary distance
Variation	info
Gene	ATP6
CLNDBN	Leigh syndrome Ataxia and polyneuropathy, adult-onset Neuropathy ataxia retinitis pigmentosa syndrome Ataxia not provided Bilateral cleft lip and palate Camptodactyly of finger Hypertelorism Low-set ears Postaxial hand polydactyly Premature birth Scrotal hypoplasia Wide intermamillary distance
Reversed	0
HGVS	NC_012920.1:m.8993T>C; NC_012920.1:m.8993T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010275.5, RCV000010276.4, RCV000010273.3, RCV000010274.2, RCV000191106.1, RCV000224643.1, RCV000414771.1,