rs797044823

Orientation

plus

Stabilized

plus

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

Make rs797044823(-;GGCCGCAGCAG)

Make rs797044823(GGCCGCAGCAG;GGCCGCAGCAG)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7530389

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs797044823
dbSNP (classic)	rs797044823
ClinGen	rs797044823
ebi	rs797044823
HLI	rs797044823
Exac	rs797044823
Gnomad	rs797044823
Varsome	rs797044823
LitVar	rs797044823
Map	rs797044823
PheGenI	rs797044823
Biobank	rs797044823
1000 genomes	rs797044823
hgdp	rs797044823
ensembl	rs797044823
geneview	rs797044823
scholar	rs797044823
google	rs797044823
pharmgkb	rs797044823
gwascentral	rs797044823
openSNP	rs797044823
23andMe	rs797044823
SNPshot	rs797044823
SNPdbe	rs797044823
MSV3d	rs797044823
GWAS Ctlg	rs797044823

Max Magnitude

0

ClinVar
Risk	rs797044823(CGCAGCAGGGC;CGCAGCAGGGC)
Alt	rs797044823(CGCAGCAGGGC;CGCAGCAGGGC)
Reference	Rs797044823(-;-)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7595265_7595275dupGGCCGCAGCAG
CLNSRC
CLNACC	RCV000193040.1,