rs119458969

Orientation

minus

Stabilized

minus

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

Make rs119458969(G;G)

Make rs119458969(G;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

76286463

Gene

ETFA

is a	snp
is	mentioned by
dbSNP	rs119458969
dbSNP (classic)	rs119458969
ClinGen	rs119458969
ebi	rs119458969
HLI	rs119458969
Exac	rs119458969
Gnomad	rs119458969
Varsome	rs119458969
LitVar	rs119458969
Map	rs119458969
PheGenI	rs119458969
Biobank	rs119458969
1000 genomes	rs119458969
hgdp	rs119458969
ensembl	rs119458969
geneview	rs119458969
scholar	rs119458969
google	rs119458969
pharmgkb	rs119458969
gwascentral	rs119458969
openSNP	rs119458969
23andMe	rs119458969
SNPshot	rs119458969
SNPdbe	rs119458969
MSV3d	rs119458969
GWAS Ctlg	rs119458969

Max Magnitude

0

OMIM	608053
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119458969(G;G)
Alt	rs119458969(G;G)
Reference	Rs119458969(T;T)
Significance	Pathogenic
Disease	Glutaric acidemia IIA
Variation	info
Gene	ETFA
CLNDBN	Glutaric acidemia IIA
Reversed	1
HGVS	NC_000015.9:g.76578804A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002711.2,