rs387907070

Orientation

plus

Stabilized

plus

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

Make rs387907070(C;T)

Make rs387907070(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

73978783

Gene

TMEM70

is a	snp
is	mentioned by
dbSNP	rs387907070
dbSNP (classic)	rs387907070
ClinGen	rs387907070
ebi	rs387907070
HLI	rs387907070
Exac	rs387907070
Gnomad	rs387907070
Varsome	rs387907070
LitVar	rs387907070
Map	rs387907070
PheGenI	rs387907070
Biobank	rs387907070
1000 genomes	rs387907070
hgdp	rs387907070
ensembl	rs387907070
geneview	rs387907070
scholar	rs387907070
google	rs387907070
pharmgkb	rs387907070
gwascentral	rs387907070
openSNP	rs387907070
23andMe	rs387907070
SNPshot	rs387907070
SNPdbe	rs387907070
MSV3d	rs387907070
GWAS Ctlg	rs387907070

Max Magnitude

0

ClinVar
Risk	rs387907070(T;T)
Alt	rs387907070(T;T)
Reference	Rs387907070(C;C)
Significance	Pathogenic
Disease	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
Variation	info
Gene	TMEM70
CLNDBN	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
Reversed	0
HGVS	NC_000008.10:g.74891018C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023948.3,