rs1060499785

Orientation

minus

Stabilized

minus

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

Make rs1060499785(A;A)

Make rs1060499785(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

43979825

Gene

LRPPRC

is a	snp
is	mentioned by
dbSNP	rs1060499785
dbSNP (classic)	rs1060499785
ClinGen	rs1060499785
ebi	rs1060499785
HLI	rs1060499785
Exac	rs1060499785
Gnomad	rs1060499785
Varsome	rs1060499785
LitVar	rs1060499785
Map	rs1060499785
PheGenI	rs1060499785
Biobank	rs1060499785
1000 genomes	rs1060499785
hgdp	rs1060499785
ensembl	rs1060499785
geneview	rs1060499785
scholar	rs1060499785
google	rs1060499785
pharmgkb	rs1060499785
gwascentral	rs1060499785
openSNP	rs1060499785
23andMe	rs1060499785
SNPshot	rs1060499785
SNPdbe	rs1060499785
MSV3d	rs1060499785
GWAS Ctlg	rs1060499785

Max Magnitude

0

ClinVar
Risk	rs1060499785(A;A)
Alt	rs1060499785(A;A)
Reference	Rs1060499785(G;G)
Significance	Probable-Pathogenic
Disease	Leigh syndrome
Variation	info
Gene	LRPPRC
CLNDBN	Leigh syndrome, French Canadian type
Reversed	1
HGVS	NC_000002.11:g.44206964C>T
CLNSRC
CLNACC	RCV000454266.1,