rs797044817

Orientation

plus

Stabilized

plus

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

Make rs797044817(-;-)

Make rs797044817(-;CTT)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7529187

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs797044817
dbSNP (classic)	rs797044817
ClinGen	rs797044817
ebi	rs797044817
HLI	rs797044817
Exac	rs797044817
Gnomad	rs797044817
Varsome	rs797044817
LitVar	rs797044817
Map	rs797044817
PheGenI	rs797044817
Biobank	rs797044817
1000 genomes	rs797044817
hgdp	rs797044817
ensembl	rs797044817
geneview	rs797044817
scholar	rs797044817
google	rs797044817
pharmgkb	rs797044817
gwascentral	rs797044817
openSNP	rs797044817
23andMe	rs797044817
SNPshot	rs797044817
SNPdbe	rs797044817
MSV3d	rs797044817
GWAS Ctlg	rs797044817

Max Magnitude

0

ClinVar
Risk	rs797044817(-;-)
Alt	rs797044817(-;-)
Reference	Rs797044817(CTT;CTT)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7594073_7594075delCTT
CLNSRC
CLNACC	RCV000192301.1,