rs119458970

Orientation

minus

Stabilized

minus

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

Make rs119458970(C;T)

Make rs119458970(T;T)

Reference

GRCh38 38.1/142

Chromosome

15

Position

76274431

Gene

ETFA

is a	snp
is	mentioned by
dbSNP	rs119458970
dbSNP (classic)	rs119458970
ClinGen	rs119458970
ebi	rs119458970
HLI	rs119458970
Exac	rs119458970
Gnomad	rs119458970
Varsome	rs119458970
LitVar	rs119458970
Map	rs119458970
PheGenI	rs119458970
Biobank	rs119458970
1000 genomes	rs119458970
hgdp	rs119458970
ensembl	rs119458970
geneview	rs119458970
scholar	rs119458970
google	rs119458970
pharmgkb	rs119458970
gwascentral	rs119458970
openSNP	rs119458970
23andMe	rs119458970
SNPshot	rs119458970
SNPdbe	rs119458970
MSV3d	rs119458970
GWAS Ctlg	rs119458970

Max Magnitude

0

OMIM	608053
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119458970(T;T)
Alt	rs119458970(T;T)
Reference	Rs119458970(C;C)
Significance	Other
Disease	Glutaric acidemia IIA not provided Glutaric aciduria
Variation	info
Gene	ETFA
CLNDBN	Glutaric acidemia IIA not provided Glutaric aciduria, type 2
Reversed	1
HGVS	NC_000015.9:g.76566772G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002712.2, RCV000185868.2, RCV000332032.1,