rs767950930

Orientation

plus

Stabilized

plus

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

Make rs767950930(A;A)

Make rs767950930(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

7528704

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs767950930
dbSNP (classic)	rs767950930
ClinGen	rs767950930
ebi	rs767950930
HLI	rs767950930
Exac	rs767950930
Gnomad	rs767950930
Varsome	rs767950930
LitVar	rs767950930
Map	rs767950930
PheGenI	rs767950930
Biobank	rs767950930
1000 genomes	rs767950930
hgdp	rs767950930
ensembl	rs767950930
geneview	rs767950930
scholar	rs767950930
google	rs767950930
pharmgkb	rs767950930
gwascentral	rs767950930
openSNP	rs767950930
23andMe	rs767950930
SNPshot	rs767950930
SNPdbe	rs767950930
MSV3d	rs767950930
GWAS Ctlg	rs767950930

Max Magnitude

0

ClinVar
Risk	rs767950930(A;A)
Alt	rs767950930(A;A)
Reference	Rs767950930(G;G)
Significance	Probable-Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7593590G>A
CLNSRC
CLNACC	RCV000411895.1,