rs121913132

Orientation

plus

Stabilized

plus

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

Make rs121913132(A;A)

Make rs121913132(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

26263452

Gene

HADHB

is a	snp
is	mentioned by
dbSNP	rs121913132
dbSNP (classic)	rs121913132
ClinGen	rs121913132
ebi	rs121913132
HLI	rs121913132
Exac	rs121913132
Gnomad	rs121913132
Varsome	rs121913132
LitVar	rs121913132
Map	rs121913132
PheGenI	rs121913132
Biobank	rs121913132
1000 genomes	rs121913132
hgdp	rs121913132
ensembl	rs121913132
geneview	rs121913132
scholar	rs121913132
google	rs121913132
pharmgkb	rs121913132
gwascentral	rs121913132
openSNP	rs121913132
23andMe	rs121913132
SNPshot	rs121913132
SNPdbe	rs121913132
MSV3d	rs121913132
GWAS Ctlg	rs121913132

Max Magnitude

0

OMIM	143450
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121913132(A;A)
Alt	rs121913132(A;A)
Reference	Rs121913132(G;G)
Significance	Pathogenic
Disease	Mitochondrial trifunctional protein deficiency
Variation	info
Gene	HADHB
CLNDBN	Mitochondrial trifunctional protein deficiency
Reversed	0
HGVS	NC_000002.11:g.26486320G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015970.26,