rs797044819

Orientation

plus

Stabilized

plus

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

Make rs797044819(-;-)

Make rs797044819(-;G)

Reference

GRCh38.p2 38.2/146

Chromosome

19

Position

7533562

Gene	MCOLN1, PNPLA6

is a	snp
is	mentioned by
dbSNP	rs797044819
dbSNP (classic)	rs797044819
ClinGen	rs797044819
ebi	rs797044819
HLI	rs797044819
Exac	rs797044819
Gnomad	rs797044819
Varsome	rs797044819
LitVar	rs797044819
Map	rs797044819
PheGenI	rs797044819
Biobank	rs797044819
1000 genomes	rs797044819
hgdp	rs797044819
ensembl	rs797044819
geneview	rs797044819
scholar	rs797044819
google	rs797044819
pharmgkb	rs797044819
gwascentral	rs797044819
openSNP	rs797044819
23andMe	rs797044819
SNPshot	rs797044819
SNPdbe	rs797044819
MSV3d	rs797044819
GWAS Ctlg	rs797044819

Merged from

Rs797044831

Max Magnitude

0

ClinVar
Risk	rs797044819(-;-)
Alt	rs797044819(-;-)
Reference	Rs797044819(G;G)
Significance	Pathogenic
Disease	Ganglioside sialidase deficiency
Variation	info
Gene	PNPLA6 MCOLN1
CLNDBN	Ganglioside sialidase deficiency
Reversed	0
HGVS	NC_000019.9:g.7598448delG
CLNSRC
CLNACC	RCV000192304.1,