rs797044826

Orientation

plus

Stabilized

plus

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

Make rs797044826(G;T)

Make rs797044826(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7526852

Gene	LOC105372261, MCOLN1

is a	snp
is	mentioned by
dbSNP	rs797044826
dbSNP (classic)	rs797044826
ClinGen	rs797044826
ebi	rs797044826
HLI	rs797044826
Exac	rs797044826
Gnomad	rs797044826
Varsome	rs797044826
LitVar	rs797044826
Map	rs797044826
PheGenI	rs797044826
Biobank	rs797044826
1000 genomes	rs797044826
hgdp	rs797044826
ensembl	rs797044826
geneview	rs797044826
scholar	rs797044826
google	rs797044826
pharmgkb	rs797044826
gwascentral	rs797044826
openSNP	rs797044826
23andMe	rs797044826
SNPshot	rs797044826
SNPdbe	rs797044826
MSV3d	rs797044826
GWAS Ctlg	rs797044826

Max Magnitude

0

ClinVar
Risk	rs797044826(T;T)
Alt	rs797044826(T;T)
Reference	Rs797044826(G;G)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7591738G>T
CLNSRC
CLNACC	RCV000195036.1,