rs193302851

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(-;C)	3	Carrier of a mucolipidosis III gamma mutation
(C;C)	6.1	Mucolipidosis III gamma

Reference

GRCh38 38.1/141

Chromosome

16

Position

1362317

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs193302851
dbSNP (classic)	rs193302851
ClinGen	rs193302851
ebi	rs193302851
HLI	rs193302851
Exac	rs193302851
Gnomad	rs193302851
Varsome	rs193302851
LitVar	rs193302851
Map	rs193302851
PheGenI	rs193302851
Biobank	rs193302851
1000 genomes	rs193302851
hgdp	rs193302851
ensembl	rs193302851
geneview	rs193302851
scholar	rs193302851
google	rs193302851
pharmgkb	rs193302851
gwascentral	rs193302851
openSNP	rs193302851
23andMe	rs193302851
SNPshot	rs193302851
SNPdbe	rs193302851
MSV3d	rs193302851
GWAS Ctlg	rs193302851

Max Magnitude

6.1

ClinVar
Risk	Rs193302851(C;C)
Alt	Rs193302851(C;C)
Reference	Rs193302851(-;-)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1412318dupC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020920.1,