rs28940289

Orientation

minus

Stabilized

minus

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

Make rs28940289(C;T)

Make rs28940289(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

43511455

Gene

ETHE1

is a	snp
is	mentioned by
dbSNP	rs28940289
dbSNP (classic)	rs28940289
ClinGen	rs28940289
ebi	rs28940289
HLI	rs28940289
Exac	rs28940289
Gnomad	rs28940289
Varsome	rs28940289
LitVar	rs28940289
Map	rs28940289
PheGenI	rs28940289
Biobank	rs28940289
1000 genomes	rs28940289
hgdp	rs28940289
ensembl	rs28940289
geneview	rs28940289
scholar	rs28940289
google	rs28940289
pharmgkb	rs28940289
gwascentral	rs28940289
openSNP	rs28940289
23andMe	rs28940289
SNPshot	rs28940289
SNPdbe	rs28940289
MSV3d	rs28940289
GWAS Ctlg	rs28940289

Max Magnitude

0

OMIM	608451
Desc	ETHYLMALONIC ENCEPHALOPATHY
Variant	0001
Related	also

ClinVar
Risk	rs28940289(T;T)
Alt	rs28940289(T;T)
Reference	Rs28940289(C;C)
Significance	Pathogenic
Disease	Ethylmalonic encephalopathy
Variation	info
Gene	ETHE1
CLNDBN	Ethylmalonic encephalopathy
Reversed	1
HGVS	NC_000019.9:g.44015607G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002407.3,