rs143697995

Orientation

plus

Stabilized

plus

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

Make rs143697995(G;G)

Make rs143697995(G;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

223959821

Gene

MRPL44

is a	snp
is	mentioned by
dbSNP	rs143697995
dbSNP (classic)	rs143697995
ClinGen	rs143697995
ebi	rs143697995
HLI	rs143697995
Exac	rs143697995
Gnomad	rs143697995
Varsome	rs143697995
LitVar	rs143697995
Map	rs143697995
PheGenI	rs143697995
Biobank	rs143697995
1000 genomes	rs143697995
hgdp	rs143697995
ensembl	rs143697995
geneview	rs143697995
scholar	rs143697995
google	rs143697995
pharmgkb	rs143697995
gwascentral	rs143697995
openSNP	rs143697995
23andMe	rs143697995
SNPshot	rs143697995
SNPdbe	rs143697995
MSV3d	rs143697995
GWAS Ctlg	rs143697995

Max Magnitude

0

ClinVar
Risk	rs143697995(C;C) rs143697995(G;G)
Alt	rs143697995(C;C) rs143697995(G;G)
Reference	Rs143697995(T;T)
Significance	Other
Disease	Combined oxidative phosphorylation deficiency 16 not provided
Variation	info
Gene	MRPL44
CLNDBN	Combined oxidative phosphorylation deficiency 16 not provided
Reversed	0
HGVS	NC_000002.11:g.224824538T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054810.2, RCV000198356.1,