rs1057517453

Orientation

plus

Stabilized

plus

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

Make rs1057517453(A;G)

Make rs1057517453(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

7527862

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs1057517453
dbSNP (classic)	rs1057517453
ClinGen	rs1057517453
ebi	rs1057517453
HLI	rs1057517453
Exac	rs1057517453
Gnomad	rs1057517453
Varsome	rs1057517453
LitVar	rs1057517453
Map	rs1057517453
PheGenI	rs1057517453
Biobank	rs1057517453
1000 genomes	rs1057517453
hgdp	rs1057517453
ensembl	rs1057517453
geneview	rs1057517453
scholar	rs1057517453
google	rs1057517453
pharmgkb	rs1057517453
gwascentral	rs1057517453
openSNP	rs1057517453
23andMe	rs1057517453
SNPshot	rs1057517453
SNPdbe	rs1057517453
MSV3d	rs1057517453
GWAS Ctlg	rs1057517453

Max Magnitude

0

ClinVar
Risk	rs1057517453(G;G)
Alt	rs1057517453(G;G)
Reference	Rs1057517453(A;A)
Significance	Probable-Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7592748A>G
CLNSRC
CLNACC	RCV000409750.1,