rs193302847

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

1362037

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs193302847
dbSNP (classic)	rs193302847
ClinGen	rs193302847
ebi	rs193302847
HLI	rs193302847
Exac	rs193302847
Gnomad	rs193302847
Varsome	rs193302847
LitVar	rs193302847
Map	rs193302847
PheGenI	rs193302847
Biobank	rs193302847
1000 genomes	rs193302847
hgdp	rs193302847
ensembl	rs193302847
geneview	rs193302847
scholar	rs193302847
google	rs193302847
pharmgkb	rs193302847
gwascentral	rs193302847
openSNP	rs193302847
23andMe	rs193302847
SNPshot	rs193302847
SNPdbe	rs193302847
MSV3d	rs193302847
GWAS Ctlg	rs193302847

Max Magnitude

6.1

ClinVar
Risk	Rs193302847(C;C)
Alt	Rs193302847(C;C)
Reference	Rs193302847(G;G)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1412038G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020917.1,