rs121908371

Orientation

plus

Stabilized

plus

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

Make rs121908371(C;T)

Make rs121908371(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

7528683

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs121908371
dbSNP (classic)	rs121908371
ClinGen	rs121908371
ebi	rs121908371
HLI	rs121908371
Exac	rs121908371
Gnomad	rs121908371
Varsome	rs121908371
LitVar	rs121908371
Map	rs121908371
PheGenI	rs121908371
Biobank	rs121908371
1000 genomes	rs121908371
hgdp	rs121908371
ensembl	rs121908371
geneview	rs121908371
scholar	rs121908371
google	rs121908371
pharmgkb	rs121908371
gwascentral	rs121908371
openSNP	rs121908371
23andMe	rs121908371
SNPshot	rs121908371
SNPdbe	rs121908371
MSV3d	rs121908371
GWAS Ctlg	rs121908371

Max Magnitude

0

OMIM	605248
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121908371(T;T)
Alt	rs121908371(T;T)
Reference	Rs121908371(C;C)
Significance	Other
Disease	Ganglioside sialidase deficiency not provided
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency not provided
Reversed	0
HGVS	NC_000019.9:g.7593569C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005440.5, RCV000479374.1,