rs1057516602

Orientation

plus

Stabilized

plus

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

Make rs1057516602(-;C)

Make rs1057516602(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

7524983

Gene	LOC105372261, MCOLN1

is a	snp
is	mentioned by
dbSNP	rs1057516602
dbSNP (classic)	rs1057516602
ClinGen	rs1057516602
ebi	rs1057516602
HLI	rs1057516602
Exac	rs1057516602
Gnomad	rs1057516602
Varsome	rs1057516602
LitVar	rs1057516602
Map	rs1057516602
PheGenI	rs1057516602
Biobank	rs1057516602
1000 genomes	rs1057516602
hgdp	rs1057516602
ensembl	rs1057516602
geneview	rs1057516602
scholar	rs1057516602
google	rs1057516602
pharmgkb	rs1057516602
gwascentral	rs1057516602
openSNP	rs1057516602
23andMe	rs1057516602
SNPshot	rs1057516602
SNPdbe	rs1057516602
MSV3d	rs1057516602
GWAS Ctlg	rs1057516602

Max Magnitude

0

ClinVar
Risk	rs1057516602(C;C)
Alt	rs1057516602(C;C)
Reference	Rs1057516602(-;-)
Significance	Probable-Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7589869dupC
CLNSRC
CLNACC	RCV000410945.1,