rs121964955

Orientation

plus

Stabilized

plus

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

Make rs121964955(G;T)

Make rs121964955(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

158685137

Gene

ETFDH

is a	snp
is	mentioned by
dbSNP	rs121964955
dbSNP (classic)	rs121964955
ClinGen	rs121964955
ebi	rs121964955
HLI	rs121964955
Exac	rs121964955
Gnomad	rs121964955
Varsome	rs121964955
LitVar	rs121964955
Map	rs121964955
PheGenI	rs121964955
Biobank	rs121964955
1000 genomes	rs121964955
hgdp	rs121964955
ensembl	rs121964955
geneview	rs121964955
scholar	rs121964955
google	rs121964955
pharmgkb	rs121964955
gwascentral	rs121964955
openSNP	rs121964955
23andMe	rs121964955
SNPshot	rs121964955
SNPdbe	rs121964955
MSV3d	rs121964955
GWAS Ctlg	rs121964955

Max Magnitude

0

OMIM	231675
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121964955(A;A) rs121964955(C;C) rs121964955(T;T)
Alt	rs121964955(A;A) rs121964955(C;C) rs121964955(T;T)
Reference	Rs121964955(G;G)
Significance	Pathogenic
Disease	Glutaric acidemia IIC not provided
Variation	info
Gene	ETFDH
CLNDBN	Glutaric acidemia IIC not provided
Reversed	0
HGVS	NC_000004.11:g.159606289G>A; NC_000004.11:g.159606289G>C; NC_000004.11:g.159606289G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024282.24, RCV000185890.1, RCV000012809.24,