rs767122713

Orientation

plus

Stabilized

plus

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

Make rs767122713(A;C)

Make rs767122713(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7527877

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs767122713
dbSNP (classic)	rs767122713
ClinGen	rs767122713
ebi	rs767122713
HLI	rs767122713
Exac	rs767122713
Gnomad	rs767122713
Varsome	rs767122713
LitVar	rs767122713
Map	rs767122713
PheGenI	rs767122713
Biobank	rs767122713
1000 genomes	rs767122713
hgdp	rs767122713
ensembl	rs767122713
geneview	rs767122713
scholar	rs767122713
google	rs767122713
pharmgkb	rs767122713
gwascentral	rs767122713
openSNP	rs767122713
23andMe	rs767122713
SNPshot	rs767122713
SNPdbe	rs767122713
MSV3d	rs767122713
GWAS Ctlg	rs767122713

Max Magnitude

0

ClinVar
Risk	rs767122713(C;C)
Alt	rs767122713(C;C)
Reference	Rs767122713(A;A)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7592763A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000192300.1,