rs1057519447

Orientation

minus

Stabilized

minus

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

Make rs1057519447(C;C)

Make rs1057519447(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

98926570

Gene

FBXL4

is a	snp
is	mentioned by
dbSNP	rs1057519447
dbSNP (classic)	rs1057519447
ClinGen	rs1057519447
ebi	rs1057519447
HLI	rs1057519447
Exac	rs1057519447
Gnomad	rs1057519447
Varsome	rs1057519447
LitVar	rs1057519447
Map	rs1057519447
PheGenI	rs1057519447
Biobank	rs1057519447
1000 genomes	rs1057519447
hgdp	rs1057519447
ensembl	rs1057519447
geneview	rs1057519447
scholar	rs1057519447
google	rs1057519447
pharmgkb	rs1057519447
gwascentral	rs1057519447
openSNP	rs1057519447
23andMe	rs1057519447
SNPshot	rs1057519447
SNPdbe	rs1057519447
MSV3d	rs1057519447
GWAS Ctlg	rs1057519447

Max Magnitude

0

ClinVar
Risk	rs1057519447(C;C)
Alt	rs1057519447(C;C)
Reference	Rs1057519447(T;T)
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.99374446A>G
CLNSRC
CLNACC	RCV000416414.1,