rs193302855

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

1362609

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs193302855
dbSNP (classic)	rs193302855
ClinGen	rs193302855
ebi	rs193302855
HLI	rs193302855
Exac	rs193302855
Gnomad	rs193302855
Varsome	rs193302855
LitVar	rs193302855
Map	rs193302855
PheGenI	rs193302855
Biobank	rs193302855
1000 genomes	rs193302855
hgdp	rs193302855
ensembl	rs193302855
geneview	rs193302855
scholar	rs193302855
google	rs193302855
pharmgkb	rs193302855
gwascentral	rs193302855
openSNP	rs193302855
23andMe	rs193302855
SNPshot	rs193302855
SNPdbe	rs193302855
MSV3d	rs193302855
GWAS Ctlg	rs193302855

Max Magnitude

6.1

ClinVar
Risk	Rs193302855(G;G)
Alt	Rs193302855(G;G)
Reference	Rs193302855(A;A)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1412610A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020924.1,