rs587777417

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(GAGCACCC;GAGCACCC)	0	common in clinvar
(GGGTGCTC;GGGTGCTC)	0	common in clinvar

Make rs587777417(-;-)

Make rs587777417(-;GAGCACCC)

Reference

GRCh38 38.1/142

Chromosome

15

Position

65029461

Gene

MTFMT

is a	snp
is	mentioned by
dbSNP	rs587777417
dbSNP (classic)	rs587777417
ClinGen	rs587777417
ebi	rs587777417
HLI	rs587777417
Exac	rs587777417
Gnomad	rs587777417
Varsome	rs587777417
LitVar	rs587777417
Map	rs587777417
PheGenI	rs587777417
Biobank	rs587777417
1000 genomes	rs587777417
hgdp	rs587777417
ensembl	rs587777417
geneview	rs587777417
scholar	rs587777417
google	rs587777417
pharmgkb	rs587777417
gwascentral	rs587777417
openSNP	rs587777417
23andMe	rs587777417
SNPshot	rs587777417
SNPdbe	rs587777417
MSV3d	rs587777417
GWAS Ctlg	rs587777417

Max Magnitude

0

ClinVar
Risk	Rs587777417(GAGCACCC;GAGCACCC) rs587777417(-;-)
Alt	Rs587777417(GAGCACCC;GAGCACCC) rs587777417(-;-)
Reference	Rs587777417(GGGTGCTC;GGGTGCTC)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 15
Variation	info
Gene	MTFMT
CLNDBN	Combined oxidative phosphorylation deficiency 15
Reversed	1
HGVS	NC_000015.9:g.65321799_65321806delGAGCACCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000119835.3,