rs786205882

Orientation

minus

Stabilized

minus

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

Make rs786205882(-;-)

Make rs786205882(-;AATT)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

108514855

Gene

PNPLA8

is a	snp
is	mentioned by
dbSNP	rs786205882
dbSNP (classic)	rs786205882
ClinGen	rs786205882
ebi	rs786205882
HLI	rs786205882
Exac	rs786205882
Gnomad	rs786205882
Varsome	rs786205882
LitVar	rs786205882
Map	rs786205882
PheGenI	rs786205882
Biobank	rs786205882
1000 genomes	rs786205882
hgdp	rs786205882
ensembl	rs786205882
geneview	rs786205882
scholar	rs786205882
google	rs786205882
pharmgkb	rs786205882
gwascentral	rs786205882
openSNP	rs786205882
23andMe	rs786205882
SNPshot	rs786205882
SNPdbe	rs786205882
MSV3d	rs786205882
GWAS Ctlg	rs786205882

Max Magnitude

0

ClinVar
Risk	rs786205882(-;-)
Alt	rs786205882(-;-)
Reference	Rs786205882(AATT;AATT)
Significance	Pathogenic
Disease	Mitochondrial myopathy with lactic acidosis
Variation	info
Gene	PNPLA8
CLNDBN	Mitochondrial myopathy with lactic acidosis
Reversed	1
HGVS	NC_000007.13:g.108155299_108155302delAATT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000170361.4,