rs1801316

Orientation

plus

Stabilized

plus

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

Make rs1801316(C;C)

Make rs1801316(C;G)

Reference

GRCh38 38.1/142

Chromosome

X

Position

119872005

Gene	NDUFA1, RNF113A

is a	snp
is	mentioned by
dbSNP	rs1801316
dbSNP (classic)	rs1801316
ClinGen	rs1801316
ebi	rs1801316
HLI	rs1801316
Exac	rs1801316
Gnomad	rs1801316
Varsome	rs1801316
LitVar	rs1801316
Map	rs1801316
PheGenI	rs1801316
Biobank	rs1801316
1000 genomes	rs1801316
hgdp	rs1801316
ensembl	rs1801316
geneview	rs1801316
scholar	rs1801316
google	rs1801316
pharmgkb	rs1801316
gwascentral	rs1801316
openSNP	rs1801316
23andMe	rs1801316
SNPshot	rs1801316
SNPdbe	rs1801316
MSV3d	rs1801316
GWAS Ctlg	rs1801316

Max Magnitude

0

ClinVar
Risk	rs1801316(A;A) rs1801316(C;C)
Alt	rs1801316(A;A) rs1801316(C;C)
Reference	Rs1801316(G;G)
Significance	Pathogenic
Disease	Mitochondrial complex I deficiency not specified not provided
Variation	info
Gene	RNF113A NDUFA1
CLNDBN	Mitochondrial complex I deficiency not specified not provided
Reversed	0
HGVS	NC_000023.10:g.119005968G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030653.23, RCV000173348.3, RCV000418299.1,