rs398123062

Orientation

minus

Stabilized

minus

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

Make rs398123062(A;G)

Make rs398123062(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

98875423

Gene

FBXL4

is a	snp
is	mentioned by
dbSNP	rs398123062
dbSNP (classic)	rs398123062
ClinGen	rs398123062
ebi	rs398123062
HLI	rs398123062
Exac	rs398123062
Gnomad	rs398123062
Varsome	rs398123062
LitVar	rs398123062
Map	rs398123062
PheGenI	rs398123062
Biobank	rs398123062
1000 genomes	rs398123062
hgdp	rs398123062
ensembl	rs398123062
geneview	rs398123062
scholar	rs398123062
google	rs398123062
pharmgkb	rs398123062
gwascentral	rs398123062
openSNP	rs398123062
23andMe	rs398123062
SNPshot	rs398123062
SNPdbe	rs398123062
MSV3d	rs398123062
GWAS Ctlg	rs398123062

Max Magnitude

0

ClinVar
Risk	rs398123062(G;G)
Alt	rs398123062(G;G)
Reference	Rs398123062(A;A)
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.99323299T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000056331.2,