rs199476138

Orientation

plus

Stabilized

plus

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

Make rs199476138(C;C)

Make rs199476138(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

9185

Gene

ATP6

is a	snp
is	mentioned by
dbSNP	rs199476138
dbSNP (classic)	rs199476138
ClinGen	rs199476138
ebi	rs199476138
HLI	rs199476138
Exac	rs199476138
Gnomad	rs199476138
Varsome	rs199476138
LitVar	rs199476138
Map	rs199476138
PheGenI	rs199476138
Biobank	rs199476138
1000 genomes	rs199476138
hgdp	rs199476138
ensembl	rs199476138
geneview	rs199476138
scholar	rs199476138
google	rs199476138
pharmgkb	rs199476138
gwascentral	rs199476138
openSNP	rs199476138
23andMe	rs199476138
SNPshot	rs199476138
SNPdbe	rs199476138
MSV3d	rs199476138
GWAS Ctlg	rs199476138

Max Magnitude

0

ClinVar
Risk	rs199476138(C;C)
Alt	rs199476138(C;C)
Reference	Rs199476138(T;T)
Significance	Pathogenic
Disease	Leigh syndrome Charcot-Marie-Tooth disease
Variation	info
Gene	ATP6
CLNDBN	Leigh syndrome Charcot-Marie-Tooth disease
Reversed	0
HGVS	NC_012920.1:m.9185T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010282.5, RCV000240612.1,