rs754097561

Orientation

plus

Stabilized

plus

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

Make rs754097561(A;A)

Make rs754097561(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7529689

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs754097561
dbSNP (classic)	rs754097561
ClinGen	rs754097561
ebi	rs754097561
HLI	rs754097561
Exac	rs754097561
Gnomad	rs754097561
Varsome	rs754097561
LitVar	rs754097561
Map	rs754097561
PheGenI	rs754097561
Biobank	rs754097561
1000 genomes	rs754097561
hgdp	rs754097561
ensembl	rs754097561
geneview	rs754097561
scholar	rs754097561
google	rs754097561
pharmgkb	rs754097561
gwascentral	rs754097561
openSNP	rs754097561
23andMe	rs754097561
SNPshot	rs754097561
SNPdbe	rs754097561
MSV3d	rs754097561
GWAS Ctlg	rs754097561

Max Magnitude

0

ClinVar
Risk	rs754097561(A;A) rs754097561(T;T)
Alt	rs754097561(A;A) rs754097561(T;T)
Reference	Rs754097561(G;G)
Significance	Pathogenic
Disease	not provided Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	not provided Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7594575G>A; NC_000019.9:g.7594575G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000489236.1, RCV000194491.1,