rs193302858

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

1362640

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs193302858
dbSNP (classic)	rs193302858
ClinGen	rs193302858
ebi	rs193302858
HLI	rs193302858
Exac	rs193302858
Gnomad	rs193302858
Varsome	rs193302858
LitVar	rs193302858
Map	rs193302858
PheGenI	rs193302858
Biobank	rs193302858
1000 genomes	rs193302858
hgdp	rs193302858
ensembl	rs193302858
geneview	rs193302858
scholar	rs193302858
google	rs193302858
pharmgkb	rs193302858
gwascentral	rs193302858
openSNP	rs193302858
23andMe	rs193302858
SNPshot	rs193302858
SNPdbe	rs193302858
MSV3d	rs193302858
GWAS Ctlg	rs193302858

Max Magnitude

6.1

ClinVar
Risk	Rs193302858(-;-)
Alt	Rs193302858(-;-)
Reference	Rs193302858(T;T)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1412641delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020926.1,