rs193302854

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	3	Likely miscall if from Ancestry data; otherwise, mucolipidosis mutation
(G;G)	0	common in clinvar
(G;T)	3	Carrier of a mucolipidosis III gamma mutation
(T;T)	6.1	Mucolipidosis III gamma

Make rs193302854(C;T)

Reference

GRCh38 38.1/142

Chromosome

16

Position

1362610

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs193302854
dbSNP (classic)	rs193302854
ClinGen	rs193302854
ebi	rs193302854
HLI	rs193302854
Exac	rs193302854
Gnomad	rs193302854
Varsome	rs193302854
LitVar	rs193302854
Map	rs193302854
PheGenI	rs193302854
Biobank	rs193302854
1000 genomes	rs193302854
hgdp	rs193302854
ensembl	rs193302854
geneview	rs193302854
scholar	rs193302854
google	rs193302854
pharmgkb	rs193302854
gwascentral	rs193302854
openSNP	rs193302854
23andMe	rs193302854
SNPshot	rs193302854
SNPdbe	rs193302854
MSV3d	rs193302854
GWAS Ctlg	rs193302854

Max Magnitude

6.1

ClinVar
Risk	Rs193302854(C;C) Rs193302854(T;T)
Alt	Rs193302854(C;C) Rs193302854(T;T)
Reference	Rs193302854(G;G)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1412611G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020923.1,