rs201430951

Orientation

plus

Stabilized

plus

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

Make rs201430951(C;C)

Make rs201430951(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

31599308

Gene

NUBPL

is a	snp
is	mentioned by
dbSNP	rs201430951
dbSNP (classic)	rs201430951
ClinGen	rs201430951
ebi	rs201430951
HLI	rs201430951
Exac	rs201430951
Gnomad	rs201430951
Varsome	rs201430951
LitVar	rs201430951
Map	rs201430951
PheGenI	rs201430951
Biobank	rs201430951
1000 genomes	rs201430951
hgdp	rs201430951
ensembl	rs201430951
geneview	rs201430951
scholar	rs201430951
google	rs201430951
pharmgkb	rs201430951
gwascentral	rs201430951
openSNP	rs201430951
23andMe	rs201430951
SNPshot	rs201430951
SNPdbe	rs201430951
MSV3d	rs201430951
GWAS Ctlg	rs201430951

Max Magnitude

0

ClinVar
Risk	rs201430951(C;C)
Alt	rs201430951(C;C)
Reference	Rs201430951(T;T)
Significance	Pathogenic
Disease	Mitochondrial complex I deficiency Inborn genetic diseases
Variation	info
Gene	NUBPL
CLNDBN	Mitochondrial complex I deficiency Inborn genetic diseases
Reversed	0
HGVS	NC_000014.8:g.32068514T>C
CLNSRC	Baylor College of Medicine
CLNACC	RCV000191115.1, RCV000210568.1,