rs397514612

Orientation

plus

Stabilized

plus

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

Make rs397514612(A;T)

Make rs397514612(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

5613275

Gene

FARS2

is a	snp
is	mentioned by
dbSNP	rs397514612
dbSNP (classic)	rs397514612
ClinGen	rs397514612
ebi	rs397514612
HLI	rs397514612
Exac	rs397514612
Gnomad	rs397514612
Varsome	rs397514612
LitVar	rs397514612
Map	rs397514612
PheGenI	rs397514612
Biobank	rs397514612
1000 genomes	rs397514612
hgdp	rs397514612
ensembl	rs397514612
geneview	rs397514612
scholar	rs397514612
google	rs397514612
pharmgkb	rs397514612
gwascentral	rs397514612
openSNP	rs397514612
23andMe	rs397514612
SNPshot	rs397514612
SNPdbe	rs397514612
MSV3d	rs397514612
GWAS Ctlg	rs397514612

Max Magnitude

0

ClinVar
Risk	rs397514612(T;T)
Alt	rs397514612(T;T)
Reference	Rs397514612(A;A)
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.5613508A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033046.3,