rs797044828

Orientation

plus

Stabilized

plus

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

Make rs797044828(C;G)

Make rs797044828(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7530321

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs797044828
dbSNP (classic)	rs797044828
ClinGen	rs797044828
ebi	rs797044828
HLI	rs797044828
Exac	rs797044828
Gnomad	rs797044828
Varsome	rs797044828
LitVar	rs797044828
Map	rs797044828
PheGenI	rs797044828
Biobank	rs797044828
1000 genomes	rs797044828
hgdp	rs797044828
ensembl	rs797044828
geneview	rs797044828
scholar	rs797044828
google	rs797044828
pharmgkb	rs797044828
gwascentral	rs797044828
openSNP	rs797044828
23andMe	rs797044828
SNPshot	rs797044828
SNPdbe	rs797044828
MSV3d	rs797044828
GWAS Ctlg	rs797044828

Max Magnitude

0

ClinVar
Risk	rs797044828(G;G)
Alt	rs797044828(G;G)
Reference	Rs797044828(C;C)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7595207C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000193511.1,