rs121909485

Orientation

plus

Stabilized

plus

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

Make rs121909485(C;T)

Make rs121909485(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

57796539

Gene

TSFM

is a	snp
is	mentioned by
dbSNP	rs121909485
dbSNP (classic)	rs121909485
ClinGen	rs121909485
ebi	rs121909485
HLI	rs121909485
Exac	rs121909485
Gnomad	rs121909485
Varsome	rs121909485
LitVar	rs121909485
Map	rs121909485
PheGenI	rs121909485
Biobank	rs121909485
1000 genomes	rs121909485
hgdp	rs121909485
ensembl	rs121909485
geneview	rs121909485
scholar	rs121909485
google	rs121909485
pharmgkb	rs121909485
gwascentral	rs121909485
openSNP	rs121909485
23andMe	rs121909485
SNPshot	rs121909485
SNPdbe	rs121909485
MSV3d	rs121909485
GWAS Ctlg	rs121909485

Max Magnitude

0

OMIM	604723
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909485(T;T)
Alt	rs121909485(T;T)
Reference	Rs121909485(C;C)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 3
Variation	info
Gene	TSFM AVIL
CLNDBN	Combined oxidative phosphorylation deficiency 3
Reversed	0
HGVS	NC_000012.11:g.58190322C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005710.3, RCV000199000.1,