rs104894554

Orientation

minus

Stabilized

minus

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

Make rs104894554(A;A)

Make rs104894554(A;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

18028276

Gene

ATPAF2

is a	snp
is	mentioned by
dbSNP	rs104894554
dbSNP (classic)	rs104894554
ClinGen	rs104894554
ebi	rs104894554
HLI	rs104894554
Exac	rs104894554
Gnomad	rs104894554
Varsome	rs104894554
LitVar	rs104894554
Map	rs104894554
PheGenI	rs104894554
Biobank	rs104894554
1000 genomes	rs104894554
hgdp	rs104894554
ensembl	rs104894554
geneview	rs104894554
scholar	rs104894554
google	rs104894554
pharmgkb	rs104894554
gwascentral	rs104894554
openSNP	rs104894554
23andMe	rs104894554
SNPshot	rs104894554
SNPdbe	rs104894554
MSV3d	rs104894554
GWAS Ctlg	rs104894554

Max Magnitude

0

OMIM	608918
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894554(A;A)
Alt	rs104894554(A;A)
Reference	Rs104894554(T;T)
Significance	Pathogenic
Disease	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1
Variation	info
Gene	ATPAF2
CLNDBN	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1
Reversed	1
HGVS	NC_000017.10:g.17931590A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002072.2,