rs121908373

Orientation

plus

Stabilized

plus

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

Make rs121908373(C;T)

Make rs121908373(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

7526505

Gene	LOC105372261, MCOLN1

is a	snp
is	mentioned by
dbSNP	rs121908373
dbSNP (classic)	rs121908373
ClinGen	rs121908373
ebi	rs121908373
HLI	rs121908373
Exac	rs121908373
Gnomad	rs121908373
Varsome	rs121908373
LitVar	rs121908373
Map	rs121908373
PheGenI	rs121908373
Biobank	rs121908373
1000 genomes	rs121908373
hgdp	rs121908373
ensembl	rs121908373
geneview	rs121908373
scholar	rs121908373
google	rs121908373
pharmgkb	rs121908373
gwascentral	rs121908373
openSNP	rs121908373
23andMe	rs121908373
SNPshot	rs121908373
SNPdbe	rs121908373
MSV3d	rs121908373
GWAS Ctlg	rs121908373

Max Magnitude

0

OMIM	605248
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908373(T;T)
Alt	rs121908373(T;T)
Reference	Rs121908373(C;C)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7591391C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005443.4,