rs797044825

Orientation

plus

Stabilized

plus

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

Make rs797044825(C;C)

Make rs797044825(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7526518

Gene	LOC105372261, MCOLN1

is a	snp
is	mentioned by
dbSNP	rs797044825
dbSNP (classic)	rs797044825
ClinGen	rs797044825
ebi	rs797044825
HLI	rs797044825
Exac	rs797044825
Gnomad	rs797044825
Varsome	rs797044825
LitVar	rs797044825
Map	rs797044825
PheGenI	rs797044825
Biobank	rs797044825
1000 genomes	rs797044825
hgdp	rs797044825
ensembl	rs797044825
geneview	rs797044825
scholar	rs797044825
google	rs797044825
pharmgkb	rs797044825
gwascentral	rs797044825
openSNP	rs797044825
23andMe	rs797044825
SNPshot	rs797044825
SNPdbe	rs797044825
MSV3d	rs797044825
GWAS Ctlg	rs797044825

Max Magnitude

0

ClinVar
Risk	rs797044825(C;C)
Alt	rs797044825(C;C)
Reference	Rs797044825(T;T)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7591404T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000194523.1,