rs121908372

Orientation

plus

Stabilized

plus

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

Make rs121908372(G;T)

Make rs121908372(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

7528920

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs121908372
dbSNP (classic)	rs121908372
ClinGen	rs121908372
ebi	rs121908372
HLI	rs121908372
Exac	rs121908372
Gnomad	rs121908372
Varsome	rs121908372
LitVar	rs121908372
Map	rs121908372
PheGenI	rs121908372
Biobank	rs121908372
1000 genomes	rs121908372
hgdp	rs121908372
ensembl	rs121908372
geneview	rs121908372
scholar	rs121908372
google	rs121908372
pharmgkb	rs121908372
gwascentral	rs121908372
openSNP	rs121908372
23andMe	rs121908372
SNPshot	rs121908372
SNPdbe	rs121908372
MSV3d	rs121908372
GWAS Ctlg	rs121908372

Max Magnitude

0

OMIM	605248
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908372(T;T)
Alt	rs121908372(T;T)
Reference	Rs121908372(G;G)
Significance	Other
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7593806G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005442.6,