rs1057516246

Orientation

plus

Stabilized

plus

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

Make rs1057516246(A;A)

Make rs1057516246(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

7522782

Gene	LOC105372261, MCOLN1

is a	snp
is	mentioned by
dbSNP	rs1057516246
dbSNP (classic)	rs1057516246
ClinGen	rs1057516246
ebi	rs1057516246
HLI	rs1057516246
Exac	rs1057516246
Gnomad	rs1057516246
Varsome	rs1057516246
LitVar	rs1057516246
Map	rs1057516246
PheGenI	rs1057516246
Biobank	rs1057516246
1000 genomes	rs1057516246
hgdp	rs1057516246
ensembl	rs1057516246
geneview	rs1057516246
scholar	rs1057516246
google	rs1057516246
pharmgkb	rs1057516246
gwascentral	rs1057516246
openSNP	rs1057516246
23andMe	rs1057516246
SNPshot	rs1057516246
SNPdbe	rs1057516246
MSV3d	rs1057516246
GWAS Ctlg	rs1057516246

Max Magnitude

0

ClinVar
Risk	rs1057516246(A;A)
Alt	rs1057516246(A;A)
Reference	Rs1057516246(G;G)
Significance	Probable-Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7587668G>A
CLNSRC
CLNACC	RCV000410923.1,