rs757075712

Orientation

plus

Stabilized

plus

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

Make rs757075712(C;T)

Make rs757075712(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

10

Position

58390856

Gene

TFAM

is a	snp
is	mentioned by
dbSNP	rs757075712
dbSNP (classic)	rs757075712
ClinGen	rs757075712
ebi	rs757075712
HLI	rs757075712
Exac	rs757075712
Gnomad	rs757075712
Varsome	rs757075712
LitVar	rs757075712
Map	rs757075712
PheGenI	rs757075712
Biobank	rs757075712
1000 genomes	rs757075712
hgdp	rs757075712
ensembl	rs757075712
geneview	rs757075712
scholar	rs757075712
google	rs757075712
pharmgkb	rs757075712
gwascentral	rs757075712
openSNP	rs757075712
23andMe	rs757075712
SNPshot	rs757075712
SNPdbe	rs757075712
MSV3d	rs757075712
GWAS Ctlg	rs757075712

Max Magnitude

0

ClinVar
Risk	rs757075712(T;T)
Alt	rs757075712(T;T)
Reference	Rs757075712(C;C)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Variation	info
Gene	TFAM
CLNDBN	Mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
Reversed	0
HGVS	NC_000010.10:g.60150616C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239740.1, RCV000256433.1,