rs1057517040

Orientation

plus

Stabilized

plus

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

Make rs1057517040(-;A)

Make rs1057517040(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

7528235

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs1057517040
dbSNP (classic)	rs1057517040
ClinGen	rs1057517040
ebi	rs1057517040
HLI	rs1057517040
Exac	rs1057517040
Gnomad	rs1057517040
Varsome	rs1057517040
LitVar	rs1057517040
Map	rs1057517040
PheGenI	rs1057517040
Biobank	rs1057517040
1000 genomes	rs1057517040
hgdp	rs1057517040
ensembl	rs1057517040
geneview	rs1057517040
scholar	rs1057517040
google	rs1057517040
pharmgkb	rs1057517040
gwascentral	rs1057517040
openSNP	rs1057517040
23andMe	rs1057517040
SNPshot	rs1057517040
SNPdbe	rs1057517040
MSV3d	rs1057517040
GWAS Ctlg	rs1057517040

Max Magnitude

0

ClinVar
Risk	rs1057517040(A;A)
Alt	rs1057517040(A;A)
Reference	Rs1057517040(-;-)
Significance	Probable-Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7593121_7593122insA
CLNSRC
CLNACC	RCV000410830.1,