rs797044829

Orientation

plus

Stabilized

plus

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

Make rs797044829(A;A)

Make rs797044829(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7530314

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs797044829
dbSNP (classic)	rs797044829
ClinGen	rs797044829
ebi	rs797044829
HLI	rs797044829
Exac	rs797044829
Gnomad	rs797044829
Varsome	rs797044829
LitVar	rs797044829
Map	rs797044829
PheGenI	rs797044829
Biobank	rs797044829
1000 genomes	rs797044829
hgdp	rs797044829
ensembl	rs797044829
geneview	rs797044829
scholar	rs797044829
google	rs797044829
pharmgkb	rs797044829
gwascentral	rs797044829
openSNP	rs797044829
23andMe	rs797044829
SNPshot	rs797044829
SNPdbe	rs797044829
MSV3d	rs797044829
GWAS Ctlg	rs797044829

Max Magnitude

0

ClinVar
Risk	rs797044829(A;A)
Alt	rs797044829(A;A)
Reference	Rs797044829(G;G)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7595200G>A
CLNSRC
CLNACC	RCV000194185.1,