rs193302848

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

1361760

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs193302848
dbSNP (classic)	rs193302848
ClinGen	rs193302848
ebi	rs193302848
HLI	rs193302848
Exac	rs193302848
Gnomad	rs193302848
Varsome	rs193302848
LitVar	rs193302848
Map	rs193302848
PheGenI	rs193302848
Biobank	rs193302848
1000 genomes	rs193302848
hgdp	rs193302848
ensembl	rs193302848
geneview	rs193302848
scholar	rs193302848
google	rs193302848
pharmgkb	rs193302848
gwascentral	rs193302848
openSNP	rs193302848
23andMe	rs193302848
SNPshot	rs193302848
SNPdbe	rs193302848
MSV3d	rs193302848
GWAS Ctlg	rs193302848

Max Magnitude

6.1

ClinVar
Risk	Rs193302848(T;T)
Alt	Rs193302848(T;T)
Reference	Rs193302848(C;C)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1411761C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020916.1,