rs104894884

Orientation

plus

Stabilized

plus

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

Make rs104894884(C;C)

Make rs104894884(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

119871933

Gene	NDUFA1, RNF113A

is a	snp
is	mentioned by
dbSNP	rs104894884
dbSNP (classic)	rs104894884
ClinGen	rs104894884
ebi	rs104894884
HLI	rs104894884
Exac	rs104894884
Gnomad	rs104894884
Varsome	rs104894884
LitVar	rs104894884
Map	rs104894884
PheGenI	rs104894884
Biobank	rs104894884
1000 genomes	rs104894884
hgdp	rs104894884
ensembl	rs104894884
geneview	rs104894884
scholar	rs104894884
google	rs104894884
pharmgkb	rs104894884
gwascentral	rs104894884
openSNP	rs104894884
23andMe	rs104894884
SNPshot	rs104894884
SNPdbe	rs104894884
MSV3d	rs104894884
GWAS Ctlg	rs104894884

Max Magnitude

0

OMIM	300078
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894884(C;C)
Alt	rs104894884(C;C)
Reference	Rs104894884(G;G)
Significance	Pathogenic
Disease	Mitochondrial complex I deficiency
Variation	info
Gene	RNF113A NDUFA1
CLNDBN	Mitochondrial complex I deficiency
Reversed	0
HGVS	NC_000023.10:g.119005896G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012414.17,