rs115532916

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a mt deficiency mutation
(G;G)	0	common in clinvar

Make rs115532916(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

128904079

Gene

ACAD9

is a	snp
is	mentioned by
dbSNP	rs115532916
dbSNP (classic)	rs115532916
ClinGen	rs115532916
ebi	rs115532916
HLI	rs115532916
Exac	rs115532916
Gnomad	rs115532916
Varsome	rs115532916
LitVar	rs115532916
Map	rs115532916
PheGenI	rs115532916
Biobank	rs115532916
1000 genomes	rs115532916
hgdp	rs115532916
ensembl	rs115532916
geneview	rs115532916
scholar	rs115532916
google	rs115532916
pharmgkb	rs115532916
gwascentral	rs115532916
openSNP	rs115532916
23andMe	rs115532916
SNPshot	rs115532916
SNPdbe	rs115532916
MSV3d	rs115532916
GWAS Ctlg	rs115532916

GMAF

0.0101

Max Magnitude

3

aka c.976G>C (p.Ala326Pro or A326P) and also c.976G>A (p.Ala326Thr or A326T); the former is considered pathogenic in ClinVar for recessively inherited mitochondrial complex I deficiency due to ACAD9 deficiency, whereas the latter is most likely benign.

ClinVar
Risk	rs115532916(A;A) rs115532916(C;C)
Alt	rs115532916(A;A) rs115532916(C;C)
Reference	Rs115532916(G;G)
Significance	Pathogenic
Disease	not specified Acyl-CoA dehydrogenase family not provided
Variation	info
Gene	ACAD9
CLNDBN	not specified Acyl-CoA dehydrogenase family, member 9, deficiency of not provided
Reversed	0
HGVS	NC_000003.11:g.128622922G>A; NC_000003.11:g.128622922G>C
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000123467.1, RCV000201693.1, RCV000395019.1, RCV000023868.3, RCV000198883.2,