rs869312995

Orientation

plus

Stabilized

plus

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

Make rs869312995(G;G)

Make rs869312995(G;T)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

193647076

Gene	LOC102724808, OPA1

is a	snp
is	mentioned by
dbSNP	rs869312995
dbSNP (classic)	rs869312995
ClinGen	rs869312995
ebi	rs869312995
HLI	rs869312995
Exac	rs869312995
Gnomad	rs869312995
Varsome	rs869312995
LitVar	rs869312995
Map	rs869312995
PheGenI	rs869312995
Biobank	rs869312995
1000 genomes	rs869312995
hgdp	rs869312995
ensembl	rs869312995
geneview	rs869312995
scholar	rs869312995
google	rs869312995
pharmgkb	rs869312995
gwascentral	rs869312995
openSNP	rs869312995
23andMe	rs869312995
SNPshot	rs869312995
SNPdbe	rs869312995
MSV3d	rs869312995
GWAS Ctlg	rs869312995

Max Magnitude

0

ClinVar
Risk	rs869312995(G;G)
Alt	rs869312995(G;G)
Reference	Rs869312995(T;T)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Variation	info
Gene	OPA1 LOC101929213
CLNDBN	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Reversed	0
HGVS	NC_000003.11:g.193364865T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210746.3,