rs398124643

Orientation

minus

Stabilized

minus

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

Make rs398124643(-;T)

Make rs398124643(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

119147853

Gene

SFXN4

is a	snp
is	mentioned by
dbSNP	rs398124643
dbSNP (classic)	rs398124643
ClinGen	rs398124643
ebi	rs398124643
HLI	rs398124643
Exac	rs398124643
Gnomad	rs398124643
Varsome	rs398124643
LitVar	rs398124643
Map	rs398124643
PheGenI	rs398124643
Biobank	rs398124643
1000 genomes	rs398124643
hgdp	rs398124643
ensembl	rs398124643
geneview	rs398124643
scholar	rs398124643
google	rs398124643
pharmgkb	rs398124643
gwascentral	rs398124643
openSNP	rs398124643
23andMe	rs398124643
SNPshot	rs398124643
SNPdbe	rs398124643
MSV3d	rs398124643
GWAS Ctlg	rs398124643

Max Magnitude

0

ClinVar
Risk	rs398124643(T;T)
Alt	rs398124643(T;T)
Reference	Rs398124643(-;-)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 18
Variation	info
Gene	SFXN4
CLNDBN	Combined oxidative phosphorylation deficiency 18
Reversed	1
HGVS	NC_000010.10:g.120907366dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000077775.3,