rs137852775

Orientation

minus

Stabilized

minus

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

Make rs137852775(C;T)

Make rs137852775(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26214490

Gene

HADHA

is a	snp
is	mentioned by
dbSNP	rs137852775
dbSNP (classic)	rs137852775
ClinGen	rs137852775
ebi	rs137852775
HLI	rs137852775
Exac	rs137852775
Gnomad	rs137852775
Varsome	rs137852775
LitVar	rs137852775
Map	rs137852775
PheGenI	rs137852775
Biobank	rs137852775
1000 genomes	rs137852775
hgdp	rs137852775
ensembl	rs137852775
geneview	rs137852775
scholar	rs137852775
google	rs137852775
pharmgkb	rs137852775
gwascentral	rs137852775
openSNP	rs137852775
23andMe	rs137852775
SNPshot	rs137852775
SNPdbe	rs137852775
MSV3d	rs137852775
GWAS Ctlg	rs137852775

Max Magnitude

0

OMIM	600890
Desc
Variant	0010
Related	also

ClinVar
Risk	rs137852775(T;T)
Alt	rs137852775(T;T)
Reference	Rs137852775(C;C)
Significance	Pathogenic
Disease	Mitochondrial trifunctional protein deficiency
Variation	info
Gene	HADHA
CLNDBN	Mitochondrial trifunctional protein deficiency
Reversed	1
HGVS	NC_000002.11:g.26437359G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009276.6,