rs797044832

Orientation

plus

Stabilized

plus

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

Make rs797044832(C;T)

Make rs797044832(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7525164

Gene	LOC105372261, MCOLN1

is a	snp
is	mentioned by
dbSNP	rs797044832
dbSNP (classic)	rs797044832
ClinGen	rs797044832
ebi	rs797044832
HLI	rs797044832
Exac	rs797044832
Gnomad	rs797044832
Varsome	rs797044832
LitVar	rs797044832
Map	rs797044832
PheGenI	rs797044832
Biobank	rs797044832
1000 genomes	rs797044832
hgdp	rs797044832
ensembl	rs797044832
geneview	rs797044832
scholar	rs797044832
google	rs797044832
pharmgkb	rs797044832
gwascentral	rs797044832
openSNP	rs797044832
23andMe	rs797044832
SNPshot	rs797044832
SNPdbe	rs797044832
MSV3d	rs797044832
GWAS Ctlg	rs797044832

Max Magnitude

0

ClinVar
Risk	rs797044832(T;T)
Alt	rs797044832(T;T)
Reference	Rs797044832(C;C)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7590050C>T
CLNSRC
CLNACC	RCV000194827.1,