rs1057516904

Orientation

plus

Stabilized

plus

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

Make rs1057516904(-;A)

Make rs1057516904(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

7528883

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs1057516904
dbSNP (classic)	rs1057516904
ClinGen	rs1057516904
ebi	rs1057516904
HLI	rs1057516904
Exac	rs1057516904
Gnomad	rs1057516904
Varsome	rs1057516904
LitVar	rs1057516904
Map	rs1057516904
PheGenI	rs1057516904
Biobank	rs1057516904
1000 genomes	rs1057516904
hgdp	rs1057516904
ensembl	rs1057516904
geneview	rs1057516904
scholar	rs1057516904
google	rs1057516904
pharmgkb	rs1057516904
gwascentral	rs1057516904
openSNP	rs1057516904
23andMe	rs1057516904
SNPshot	rs1057516904
SNPdbe	rs1057516904
MSV3d	rs1057516904
GWAS Ctlg	rs1057516904

Max Magnitude

0

ClinVar
Risk	rs1057516904(A;A)
Alt	rs1057516904(A;A)
Reference	Rs1057516904(-;-)
Significance	Probable-Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7593769dupA
CLNSRC
CLNACC	RCV000411871.1,