rs193302852

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

1362533

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs193302852
dbSNP (classic)	rs193302852
ClinGen	rs193302852
ebi	rs193302852
HLI	rs193302852
Exac	rs193302852
Gnomad	rs193302852
Varsome	rs193302852
LitVar	rs193302852
Map	rs193302852
PheGenI	rs193302852
Biobank	rs193302852
1000 genomes	rs193302852
hgdp	rs193302852
ensembl	rs193302852
geneview	rs193302852
scholar	rs193302852
google	rs193302852
pharmgkb	rs193302852
gwascentral	rs193302852
openSNP	rs193302852
23andMe	rs193302852
SNPshot	rs193302852
SNPdbe	rs193302852
MSV3d	rs193302852
GWAS Ctlg	rs193302852

Max Magnitude

6.1

ClinVar
Risk	Rs193302852(C;C) rs193302852(G;G)
Alt	Rs193302852(C;C) rs193302852(G;G)
Reference	Rs193302852(-;-)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1412534_1412535insC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020921.1,