rs398123061

Orientation

minus

Stabilized

minus

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

Make rs398123061(C;T)

Make rs398123061(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

98875673

Gene

FBXL4

is a	snp
is	mentioned by
dbSNP	rs398123061
dbSNP (classic)	rs398123061
ClinGen	rs398123061
ebi	rs398123061
HLI	rs398123061
Exac	rs398123061
Gnomad	rs398123061
Varsome	rs398123061
LitVar	rs398123061
Map	rs398123061
PheGenI	rs398123061
Biobank	rs398123061
1000 genomes	rs398123061
hgdp	rs398123061
ensembl	rs398123061
geneview	rs398123061
scholar	rs398123061
google	rs398123061
pharmgkb	rs398123061
gwascentral	rs398123061
openSNP	rs398123061
23andMe	rs398123061
SNPshot	rs398123061
SNPdbe	rs398123061
MSV3d	rs398123061
GWAS Ctlg	rs398123061

Max Magnitude

0

ClinVar
Risk	rs398123061(T;T)
Alt	rs398123061(T;T)
Reference	Rs398123061(C;C)
Significance	Other
Disease	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Global developmental delay Mitochondrial encephalomyopathy not provided
Variation	info
Gene	FBXL4
CLNDBN	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Global developmental delay Mitochondrial encephalomyopathy not provided
Reversed	1
HGVS	NC_000006.11:g.99323549G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000056330.2, RCV000162170.1, RCV000224233.1,