rs118203929

Orientation

plus

Stabilized

plus

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

Make rs118203929(C;C)

Make rs118203929(C;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

13801652

Gene

NDUFAF5

is a	snp
is	mentioned by
dbSNP	rs118203929
dbSNP (classic)	rs118203929
ClinGen	rs118203929
ebi	rs118203929
HLI	rs118203929
Exac	rs118203929
Gnomad	rs118203929
Varsome	rs118203929
LitVar	rs118203929
Map	rs118203929
PheGenI	rs118203929
Biobank	rs118203929
1000 genomes	rs118203929
hgdp	rs118203929
ensembl	rs118203929
geneview	rs118203929
scholar	rs118203929
google	rs118203929
pharmgkb	rs118203929
gwascentral	rs118203929
openSNP	rs118203929
23andMe	rs118203929
23andMe all	rs118203929
SNPshot	rs118203929
SNPdbe	rs118203929
MSV3d	rs118203929
GWAS Ctlg	rs118203929

Max Magnitude

0

OMIM	612360
Desc
Variant	0001
Related	also

ClinVar
Risk	rs118203929(C;C)
Alt	rs118203929(C;C)
Reference	Rs118203929(T;T)
Significance	Pathogenic
Disease	Mitochondrial complex I deficiency
Variation	info
Gene	NDUFAF5
CLNDBN	Mitochondrial complex I deficiency
Reversed	0
HGVS	NC_000020.10:g.13782298T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000600.3,