rs797044818

Orientation

plus

Stabilized

plus

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

Make rs797044818(A;G)

Make rs797044818(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7530332

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs797044818
dbSNP (classic)	rs797044818
ClinGen	rs797044818
ebi	rs797044818
HLI	rs797044818
Exac	rs797044818
Gnomad	rs797044818
Varsome	rs797044818
LitVar	rs797044818
Map	rs797044818
PheGenI	rs797044818
Biobank	rs797044818
1000 genomes	rs797044818
hgdp	rs797044818
ensembl	rs797044818
geneview	rs797044818
scholar	rs797044818
google	rs797044818
pharmgkb	rs797044818
gwascentral	rs797044818
openSNP	rs797044818
23andMe	rs797044818
SNPshot	rs797044818
SNPdbe	rs797044818
MSV3d	rs797044818
GWAS Ctlg	rs797044818

Max Magnitude

0

ClinVar
Risk	rs797044818(G;G)
Alt	rs797044818(G;G)
Reference	Rs797044818(A;A)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7595218A>G
CLNSRC
CLNACC	RCV000192302.1,