rs767000507

Orientation

plus

Stabilized

plus

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

Make rs767000507(C;C)

Make rs767000507(C;G)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

108567650

Gene

ISCU

is a	snp
is	mentioned by
dbSNP	rs767000507
dbSNP (classic)	rs767000507
ClinGen	rs767000507
ebi	rs767000507
HLI	rs767000507
Exac	rs767000507
Gnomad	rs767000507
Varsome	rs767000507
LitVar	rs767000507
Map	rs767000507
PheGenI	rs767000507
Biobank	rs767000507
1000 genomes	rs767000507
hgdp	rs767000507
ensembl	rs767000507
geneview	rs767000507
scholar	rs767000507
google	rs767000507
pharmgkb	rs767000507
gwascentral	rs767000507
openSNP	rs767000507
23andMe	rs767000507
SNPshot	rs767000507
SNPdbe	rs767000507
MSV3d	rs767000507
GWAS Ctlg	rs767000507

Max Magnitude

0

ClinVar
Risk	rs767000507(C;C)
Alt	rs767000507(C;C)
Reference	Rs767000507(G;G)
Significance	Pathogenic
Disease	Myopathy with lactic acidosis
Variation	info
Gene	ISCU
CLNDBN	Myopathy with lactic acidosis, hereditary
Reversed	0
HGVS	NC_000012.11:g.108961426G>C
CLNSRC
CLNACC	RCV000208760.1,