rs755042147

Orientation

plus

Stabilized

plus

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

Make rs755042147(-;-)

Make rs755042147(-;T)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7528639

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs755042147
dbSNP (classic)	rs755042147
ClinGen	rs755042147
ebi	rs755042147
HLI	rs755042147
Exac	rs755042147
Gnomad	rs755042147
Varsome	rs755042147
LitVar	rs755042147
Map	rs755042147
PheGenI	rs755042147
Biobank	rs755042147
1000 genomes	rs755042147
hgdp	rs755042147
ensembl	rs755042147
geneview	rs755042147
scholar	rs755042147
google	rs755042147
pharmgkb	rs755042147
gwascentral	rs755042147
openSNP	rs755042147
23andMe	rs755042147
SNPshot	rs755042147
SNPdbe	rs755042147
MSV3d	rs755042147
GWAS Ctlg	rs755042147

Max Magnitude

0

ClinVar
Risk	rs755042147(-;-)
Alt	rs755042147(-;-)
Reference	Rs755042147(T;T)
Significance	Other
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7593525delT
CLNSRC
CLNACC	RCV000194725.1,