rs119103249

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Carrier of an ethylmalonic encephalopathy mutation

Make rs119103249(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

43527175

Gene

ETHE1

is a	snp
is	mentioned by
dbSNP	rs119103249
dbSNP (classic)	rs119103249
ClinGen	rs119103249
ebi	rs119103249
HLI	rs119103249
Exac	rs119103249
Gnomad	rs119103249
Varsome	rs119103249
LitVar	rs119103249
Map	rs119103249
PheGenI	rs119103249
Biobank	rs119103249
1000 genomes	rs119103249
hgdp	rs119103249
ensembl	rs119103249
geneview	rs119103249
scholar	rs119103249
google	rs119103249
pharmgkb	rs119103249
gwascentral	rs119103249
openSNP	rs119103249
23andMe	rs119103249
SNPshot	rs119103249
SNPdbe	rs119103249
MSV3d	rs119103249
GWAS Ctlg	rs119103249

Max Magnitude

3

aka c.3G>T

OMIM	608451
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119103249(T;T)
Alt	rs119103249(T;T)
Reference	Rs119103249(G;G)
Significance	Pathogenic
Disease	Ethylmalonic encephalopathy not provided
Variation	info
Gene	ETHE1
CLNDBN	Ethylmalonic encephalopathy not provided
Reversed	1
HGVS	NC_000019.9:g.44031327C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002408.3, RCV000197782.1,