rs794726886

Orientation

minus

Stabilized

minus

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

Make rs794726886(A;C)

Make rs794726886(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

33097085

Gene	GLB1, TMPPE

is a	snp
is	mentioned by
dbSNP	rs794726886
dbSNP (classic)	rs794726886
ClinGen	rs794726886
ebi	rs794726886
HLI	rs794726886
Exac	rs794726886
Gnomad	rs794726886
Varsome	rs794726886
LitVar	rs794726886
Map	rs794726886
PheGenI	rs794726886
Biobank	rs794726886
1000 genomes	rs794726886
hgdp	rs794726886
ensembl	rs794726886
geneview	rs794726886
scholar	rs794726886
google	rs794726886
pharmgkb	rs794726886
gwascentral	rs794726886
openSNP	rs794726886
23andMe	rs794726886
SNPshot	rs794726886
SNPdbe	rs794726886
MSV3d	rs794726886
GWAS Ctlg	rs794726886

Max Magnitude

0

ClinVar
Risk	rs794726886(C;C)
Alt	rs794726886(C;C)
Reference	Rs794726886(A;A)
Significance	Probable-Pathogenic
Disease	Infantile GM1 gangliosidosis GM1 gangliosidosis type 2
Variation	info
Gene	TMPPE GLB1
CLNDBN	Infantile GM1 gangliosidosis GM1 gangliosidosis type 2
Reversed	1
HGVS	NC_000003.11:g.33138577T>G
CLNSRC
CLNACC	RCV000173126.1, RCV000173127.1,