rs797044824

Orientation

plus

Stabilized

plus

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

Make rs797044824(C;T)

Make rs797044824(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7526869

Gene	LOC105372261, MCOLN1

is a	snp
is	mentioned by
dbSNP	rs797044824
dbSNP (classic)	rs797044824
ClinGen	rs797044824
ebi	rs797044824
HLI	rs797044824
Exac	rs797044824
Gnomad	rs797044824
Varsome	rs797044824
LitVar	rs797044824
Map	rs797044824
PheGenI	rs797044824
Biobank	rs797044824
1000 genomes	rs797044824
hgdp	rs797044824
ensembl	rs797044824
geneview	rs797044824
scholar	rs797044824
google	rs797044824
pharmgkb	rs797044824
gwascentral	rs797044824
openSNP	rs797044824
23andMe	rs797044824
SNPshot	rs797044824
SNPdbe	rs797044824
MSV3d	rs797044824
GWAS Ctlg	rs797044824

Max Magnitude

0

ClinVar
Risk	rs797044824(T;T)
Alt	rs797044824(T;T)
Reference	Rs797044824(C;C)
Significance	Other
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7591755C>T
CLNSRC
CLNACC	RCV000195067.1,