rs398123059

Orientation

minus

Stabilized

minus

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

Make rs398123059(C;T)

Make rs398123059(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

98875562

Gene

FBXL4

is a	snp
is	mentioned by
dbSNP	rs398123059
dbSNP (classic)	rs398123059
ClinGen	rs398123059
ebi	rs398123059
HLI	rs398123059
Exac	rs398123059
Gnomad	rs398123059
Varsome	rs398123059
LitVar	rs398123059
Map	rs398123059
PheGenI	rs398123059
Biobank	rs398123059
1000 genomes	rs398123059
hgdp	rs398123059
ensembl	rs398123059
geneview	rs398123059
scholar	rs398123059
google	rs398123059
pharmgkb	rs398123059
gwascentral	rs398123059
openSNP	rs398123059
23andMe	rs398123059
SNPshot	rs398123059
SNPdbe	rs398123059
MSV3d	rs398123059
GWAS Ctlg	rs398123059

Max Magnitude

0

ClinVar
Risk	rs398123059(T;T)
Alt	rs398123059(T;T)
Reference	Rs398123059(C;C)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Variation	info
Gene	FBXL4
CLNDBN	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Reversed	1
HGVS	NC_000006.11:g.99323438G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000056327.2,