rs119470018

Orientation

plus

Stabilized

plus

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

Make rs119470018(A;G)

Make rs119470018(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

158646896

Gene

GFM1

is a	snp
is	mentioned by
dbSNP	rs119470018
dbSNP (classic)	rs119470018
ClinGen	rs119470018
ebi	rs119470018
HLI	rs119470018
Exac	rs119470018
Gnomad	rs119470018
Varsome	rs119470018
LitVar	rs119470018
Map	rs119470018
PheGenI	rs119470018
Biobank	rs119470018
1000 genomes	rs119470018
hgdp	rs119470018
ensembl	rs119470018
geneview	rs119470018
scholar	rs119470018
google	rs119470018
pharmgkb	rs119470018
gwascentral	rs119470018
openSNP	rs119470018
23andMe	rs119470018
SNPshot	rs119470018
SNPdbe	rs119470018
MSV3d	rs119470018
GWAS Ctlg	rs119470018

Merged from

Rs28939098

Max Magnitude

0

OMIM	606639
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119470018(G;G)
Alt	rs119470018(G;G)
Reference	Rs119470018(A;A)
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.158364685A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004377.3,