rs797044821

Orientation

plus

Stabilized

plus

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

Make rs797044821(-;-)

Make rs797044821(-;CC)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7526828

Gene	LOC105372261, MCOLN1

is a	snp
is	mentioned by
dbSNP	rs797044821
dbSNP (classic)	rs797044821
ClinGen	rs797044821
ebi	rs797044821
HLI	rs797044821
Exac	rs797044821
Gnomad	rs797044821
Varsome	rs797044821
LitVar	rs797044821
Map	rs797044821
PheGenI	rs797044821
Biobank	rs797044821
1000 genomes	rs797044821
hgdp	rs797044821
ensembl	rs797044821
geneview	rs797044821
scholar	rs797044821
google	rs797044821
pharmgkb	rs797044821
gwascentral	rs797044821
openSNP	rs797044821
23andMe	rs797044821
SNPshot	rs797044821
SNPdbe	rs797044821
MSV3d	rs797044821
GWAS Ctlg	rs797044821

Max Magnitude

0

ClinVar
Risk	rs797044821(-;-)
Alt	rs797044821(-;-)
Reference	Rs797044821(CC;CC)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7591714_7591715delCC
CLNSRC
CLNACC	RCV000192306.1,