rs398123060

Orientation

minus

Stabilized

minus

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

Make rs398123060(C;C)

Make rs398123060(C;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

98874441

Gene

FBXL4

is a	snp
is	mentioned by
dbSNP	rs398123060
dbSNP (classic)	rs398123060
ClinGen	rs398123060
ebi	rs398123060
HLI	rs398123060
Exac	rs398123060
Gnomad	rs398123060
Varsome	rs398123060
LitVar	rs398123060
Map	rs398123060
PheGenI	rs398123060
Biobank	rs398123060
1000 genomes	rs398123060
hgdp	rs398123060
ensembl	rs398123060
geneview	rs398123060
scholar	rs398123060
google	rs398123060
pharmgkb	rs398123060
gwascentral	rs398123060
openSNP	rs398123060
23andMe	rs398123060
SNPshot	rs398123060
SNPdbe	rs398123060
MSV3d	rs398123060
GWAS Ctlg	rs398123060

Max Magnitude

0

ClinVar
Risk	rs398123060(C;C)
Alt	rs398123060(C;C)
Reference	Rs398123060(G;G)
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.99322317C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000056329.2,