rs200401432

Orientation

plus

Stabilized

plus

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

Make rs200401432(A;A)

Make rs200401432(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

31562125

Gene	LOC105370437, NUBPL

is a	snp
is	mentioned by
dbSNP	rs200401432
dbSNP (classic)	rs200401432
ClinGen	rs200401432
ebi	rs200401432
HLI	rs200401432
Exac	rs200401432
Gnomad	rs200401432
Varsome	rs200401432
LitVar	rs200401432
Map	rs200401432
PheGenI	rs200401432
Biobank	rs200401432
1000 genomes	rs200401432
hgdp	rs200401432
ensembl	rs200401432
geneview	rs200401432
scholar	rs200401432
google	rs200401432
pharmgkb	rs200401432
gwascentral	rs200401432
openSNP	rs200401432
23andMe	rs200401432
SNPshot	rs200401432
SNPdbe	rs200401432
MSV3d	rs200401432
GWAS Ctlg	rs200401432

Max Magnitude

0

ClinVar
Risk	rs200401432(A;A)
Alt	rs200401432(A;A)
Reference	Rs200401432(G;G)
Significance	Pathogenic
Disease	Mitochondrial complex I deficiency not specified
Variation	info
Gene	NUBPL
CLNDBN	Mitochondrial complex I deficiency not specified
Reversed	0
HGVS	NC_000014.8:g.32031331G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000017.3, RCV000196589.3,