rs552722349

Orientation

plus

Stabilized

plus

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

Make rs552722349(A;G)

Make rs552722349(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

14

Position

31787845

Gene

NUBPL

is a	snp
is	mentioned by
dbSNP	rs552722349
dbSNP (classic)	rs552722349
ClinGen	rs552722349
ebi	rs552722349
HLI	rs552722349
Exac	rs552722349
Gnomad	rs552722349
Varsome	rs552722349
LitVar	rs552722349
Map	rs552722349
PheGenI	rs552722349
Biobank	rs552722349
1000 genomes	rs552722349
hgdp	rs552722349
ensembl	rs552722349
geneview	rs552722349
scholar	rs552722349
google	rs552722349
pharmgkb	rs552722349
gwascentral	rs552722349
openSNP	rs552722349
23andMe	rs552722349
SNPshot	rs552722349
SNPdbe	rs552722349
MSV3d	rs552722349
GWAS Ctlg	rs552722349

Max Magnitude

0

ClinVar
Risk	rs552722349(C;C) rs552722349(G;G)
Alt	rs552722349(C;C) rs552722349(G;G)
Reference	Rs552722349(A;A)
Significance	Pathogenic
Disease	Mitochondrial complex I deficiency
Variation	info
Gene	NUBPL
CLNDBN	Mitochondrial complex I deficiency
Reversed	0
HGVS	NC_000014.8:g.32257051A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000043479.5,