rs387906962

Orientation

minus

Stabilized

minus

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

Make rs387906962(C;G)

Make rs387906962(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

131462820

Gene

MRPL3

is a	snp
is	mentioned by
dbSNP	rs387906962
dbSNP (classic)	rs387906962
ClinGen	rs387906962
ebi	rs387906962
HLI	rs387906962
Exac	rs387906962
Gnomad	rs387906962
Varsome	rs387906962
LitVar	rs387906962
Map	rs387906962
PheGenI	rs387906962
Biobank	rs387906962
1000 genomes	rs387906962
hgdp	rs387906962
ensembl	rs387906962
geneview	rs387906962
scholar	rs387906962
google	rs387906962
pharmgkb	rs387906962
gwascentral	rs387906962
openSNP	rs387906962
23andMe	rs387906962
SNPshot	rs387906962
SNPdbe	rs387906962
MSV3d	rs387906962
GWAS Ctlg	rs387906962

Max Magnitude

0

ClinVar
Risk	rs387906962(G;G)
Alt	rs387906962(G;G)
Reference	Rs387906962(C;C)
Significance	Pathogenic
Disease	Combined oxidative phosphorylation deficiency 9
Variation	info
Gene	MRPL3
CLNDBN	Combined oxidative phosphorylation deficiency 9
Reversed	1
HGVS	NC_000003.11:g.131181664G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023618.2,