rs797044822

Orientation

plus

Stabilized

plus

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

Make rs797044822(-;T)

Make rs797044822(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7529176

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs797044822
dbSNP (classic)	rs797044822
ClinGen	rs797044822
ebi	rs797044822
HLI	rs797044822
Exac	rs797044822
Gnomad	rs797044822
Varsome	rs797044822
LitVar	rs797044822
Map	rs797044822
PheGenI	rs797044822
Biobank	rs797044822
1000 genomes	rs797044822
hgdp	rs797044822
ensembl	rs797044822
geneview	rs797044822
scholar	rs797044822
google	rs797044822
pharmgkb	rs797044822
gwascentral	rs797044822
openSNP	rs797044822
23andMe	rs797044822
SNPshot	rs797044822
SNPdbe	rs797044822
MSV3d	rs797044822
GWAS Ctlg	rs797044822

Max Magnitude

0

ClinVar
Risk	rs797044822(T;T)
Alt	rs797044822(T;T)
Reference	Rs797044822(-;-)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7594062dupT
CLNSRC
CLNACC	RCV000192307.1,