rs797044820

Orientation

plus

Stabilized

plus

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

Make rs797044820(AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT;TCA)

Make rs797044820(TCA;TCA)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7525092

Gene	LOC105372261, MCOLN1

is a	snp
is	mentioned by
dbSNP	rs797044820
dbSNP (classic)	rs797044820
ClinGen	rs797044820
ebi	rs797044820
HLI	rs797044820
Exac	rs797044820
Gnomad	rs797044820
Varsome	rs797044820
LitVar	rs797044820
Map	rs797044820
PheGenI	rs797044820
Biobank	rs797044820
1000 genomes	rs797044820
hgdp	rs797044820
ensembl	rs797044820
geneview	rs797044820
scholar	rs797044820
google	rs797044820
pharmgkb	rs797044820
gwascentral	rs797044820
openSNP	rs797044820
23andMe	rs797044820
SNPshot	rs797044820
SNPdbe	rs797044820
MSV3d	rs797044820
GWAS Ctlg	rs797044820

Max Magnitude

0

ClinVar
Risk	rs797044820(TCA;TCA)
Alt	rs797044820(TCA;TCA)
Reference	Rs797044820(AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT;AAGTTTCGAGCCAAGGGCCGCAAGCCCTGCAAGCT)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7589978_7590012del35insTCA
CLNSRC
CLNACC	RCV000192305.1,