rs786205088

Orientation

minus

Stabilized

minus

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

Make rs786205088(A;A)

Make rs786205088(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

26238933

Gene

HADHA

is a	snp
is	mentioned by
dbSNP	rs786205088
dbSNP (classic)	rs786205088
ClinGen	rs786205088
ebi	rs786205088
HLI	rs786205088
Exac	rs786205088
Gnomad	rs786205088
Varsome	rs786205088
LitVar	rs786205088
Map	rs786205088
PheGenI	rs786205088
Biobank	rs786205088
1000 genomes	rs786205088
hgdp	rs786205088
ensembl	rs786205088
geneview	rs786205088
scholar	rs786205088
google	rs786205088
pharmgkb	rs786205088
gwascentral	rs786205088
openSNP	rs786205088
23andMe	rs786205088
SNPshot	rs786205088
SNPdbe	rs786205088
MSV3d	rs786205088
GWAS Ctlg	rs786205088

Max Magnitude

0

ClinVar
Risk	rs786205088(A;A)
Alt	rs786205088(A;A)
Reference	Rs786205088(G;G)
Significance	Pathogenic
Disease	Mitochondrial trifunctional protein deficiency
Variation	info
Gene	HADHA
CLNDBN	Mitochondrial trifunctional protein deficiency
Reversed	1
HGVS	NC_000002.11:g.26461801C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009269.4,