rs576462794

Orientation

plus

Stabilized

plus

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

Make rs576462794(-;-)

Make rs576462794(-;A)

Reference

GRCh38 38.1/142

Chromosome

12

Position

123253884

Gene

C12orf65

is a	snp
is	mentioned by
dbSNP	rs576462794
dbSNP (classic)	rs576462794
ClinGen	rs576462794
ebi	rs576462794
HLI	rs576462794
Exac	rs576462794
Gnomad	rs576462794
Varsome	rs576462794
LitVar	rs576462794
Map	rs576462794
PheGenI	rs576462794
Biobank	rs576462794
1000 genomes	rs576462794
hgdp	rs576462794
ensembl	rs576462794
geneview	rs576462794
scholar	rs576462794
google	rs576462794
pharmgkb	rs576462794
gwascentral	rs576462794
openSNP	rs576462794
23andMe	rs576462794
SNPshot	rs576462794
SNPdbe	rs576462794
MSV3d	rs576462794
GWAS Ctlg	rs576462794

Max Magnitude

0

ClinVar
Risk	rs576462794(-;-)
Alt	rs576462794(-;-)
Reference	Rs576462794(A;A)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 7 not provided
Variation	info
Gene	C12orf65
CLNDBN	Combined oxidative phosphorylation deficiency 7 not provided
Reversed	0
HGVS	NC_000012.11:g.123738431delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000071.4, RCV000200775.3,