rs1057516458

Orientation

plus

Stabilized

plus

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

Make rs1057516458(C;C)

Make rs1057516458(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

7529100

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs1057516458
dbSNP (classic)	rs1057516458
ClinGen	rs1057516458
ebi	rs1057516458
HLI	rs1057516458
Exac	rs1057516458
Gnomad	rs1057516458
Varsome	rs1057516458
LitVar	rs1057516458
Map	rs1057516458
PheGenI	rs1057516458
Biobank	rs1057516458
1000 genomes	rs1057516458
hgdp	rs1057516458
ensembl	rs1057516458
geneview	rs1057516458
scholar	rs1057516458
google	rs1057516458
pharmgkb	rs1057516458
gwascentral	rs1057516458
openSNP	rs1057516458
23andMe	rs1057516458
SNPshot	rs1057516458
SNPdbe	rs1057516458
MSV3d	rs1057516458
GWAS Ctlg	rs1057516458

Max Magnitude

0

ClinVar
Risk	rs1057516458(A;A) rs1057516458(C;C)
Alt	rs1057516458(A;A) rs1057516458(C;C)
Reference	Rs1057516458(G;G)
Significance	Probable-Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7593986G>A; NC_000019.9:g.7593986G>C
CLNSRC
CLNACC	RCV000409544.1, RCV000412404.1,