rs1057516531

Orientation

plus

Stabilized

plus

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

Make rs1057516531(C;T)

Make rs1057516531(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

7530373

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs1057516531
dbSNP (classic)	rs1057516531
ClinGen	rs1057516531
ebi	rs1057516531
HLI	rs1057516531
Exac	rs1057516531
Gnomad	rs1057516531
Varsome	rs1057516531
LitVar	rs1057516531
Map	rs1057516531
PheGenI	rs1057516531
Biobank	rs1057516531
1000 genomes	rs1057516531
hgdp	rs1057516531
ensembl	rs1057516531
geneview	rs1057516531
scholar	rs1057516531
google	rs1057516531
pharmgkb	rs1057516531
gwascentral	rs1057516531
openSNP	rs1057516531
23andMe	rs1057516531
SNPshot	rs1057516531
SNPdbe	rs1057516531
MSV3d	rs1057516531
GWAS Ctlg	rs1057516531

Max Magnitude

0

ClinVar
Risk	rs1057516531(T;T)
Alt	rs1057516531(T;T)
Reference	Rs1057516531(C;C)
Significance	Probable-Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7595259C>T
CLNSRC
CLNACC	RCV000412421.1,