rs139430866

Orientation

plus

Stabilized

plus

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

Make rs139430866(C;T)

Make rs139430866(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

158652154

Gene

GFM1

is a	snp
is	mentioned by
dbSNP	rs139430866
dbSNP (classic)	rs139430866
ClinGen	rs139430866
ebi	rs139430866
HLI	rs139430866
Exac	rs139430866
Gnomad	rs139430866
Varsome	rs139430866
LitVar	rs139430866
Map	rs139430866
PheGenI	rs139430866
Biobank	rs139430866
1000 genomes	rs139430866
hgdp	rs139430866
ensembl	rs139430866
geneview	rs139430866
scholar	rs139430866
google	rs139430866
pharmgkb	rs139430866
gwascentral	rs139430866
openSNP	rs139430866
23andMe	rs139430866
SNPshot	rs139430866
SNPdbe	rs139430866
MSV3d	rs139430866
GWAS Ctlg	rs139430866

Max Magnitude

0

ClinVar
Risk	rs139430866(T;T)
Alt	rs139430866(T;T)
Reference	Rs139430866(C;C)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 1
Variation	info
Gene	GFM1
CLNDBN	Combined oxidative phosphorylation deficiency 1
Reversed	0
HGVS	NC_000003.11:g.158369943C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023564.3,