rs397514611

Orientation

plus

Stabilized

plus

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

Make rs397514611(C;C)

Make rs397514611(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

5545261

Gene

FARS2

is a	snp
is	mentioned by
dbSNP	rs397514611
dbSNP (classic)	rs397514611
ClinGen	rs397514611
ebi	rs397514611
HLI	rs397514611
Exac	rs397514611
Gnomad	rs397514611
Varsome	rs397514611
LitVar	rs397514611
Map	rs397514611
PheGenI	rs397514611
Biobank	rs397514611
1000 genomes	rs397514611
hgdp	rs397514611
ensembl	rs397514611
geneview	rs397514611
scholar	rs397514611
google	rs397514611
pharmgkb	rs397514611
gwascentral	rs397514611
openSNP	rs397514611
23andMe	rs397514611
SNPshot	rs397514611
SNPdbe	rs397514611
MSV3d	rs397514611
GWAS Ctlg	rs397514611

Max Magnitude

0

ClinVar
Risk	rs397514611(C;C)
Alt	rs397514611(C;C)
Reference	Rs397514611(T;T)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 14
Variation	info
Gene	FARS2
CLNDBN	Combined oxidative phosphorylation deficiency 14
Reversed	0
HGVS	NC_000006.11:g.5545494T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033045.3,