rs797044827

Orientation

plus

Stabilized

plus

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

Make rs797044827(C;C)

Make rs797044827(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7529693

Gene

MCOLN1

is a	snp
is	mentioned by
dbSNP	rs797044827
dbSNP (classic)	rs797044827
ClinGen	rs797044827
ebi	rs797044827
HLI	rs797044827
Exac	rs797044827
Gnomad	rs797044827
Varsome	rs797044827
LitVar	rs797044827
Map	rs797044827
PheGenI	rs797044827
Biobank	rs797044827
1000 genomes	rs797044827
hgdp	rs797044827
ensembl	rs797044827
geneview	rs797044827
scholar	rs797044827
google	rs797044827
pharmgkb	rs797044827
gwascentral	rs797044827
openSNP	rs797044827
23andMe	rs797044827
SNPshot	rs797044827
SNPdbe	rs797044827
MSV3d	rs797044827
GWAS Ctlg	rs797044827

Max Magnitude

0

ClinVar
Risk	rs797044827(C;C)
Alt	rs797044827(C;C)
Reference	Rs797044827(T;T)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7594579T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000192526.1,