rs193302857

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

1362620

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs193302857
dbSNP (classic)	rs193302857
ClinGen	rs193302857
ebi	rs193302857
HLI	rs193302857
Exac	rs193302857
Gnomad	rs193302857
Varsome	rs193302857
LitVar	rs193302857
Map	rs193302857
PheGenI	rs193302857
Biobank	rs193302857
1000 genomes	rs193302857
hgdp	rs193302857
ensembl	rs193302857
geneview	rs193302857
scholar	rs193302857
google	rs193302857
pharmgkb	rs193302857
gwascentral	rs193302857
openSNP	rs193302857
23andMe	rs193302857
SNPshot	rs193302857
SNPdbe	rs193302857
MSV3d	rs193302857
GWAS Ctlg	rs193302857

Max Magnitude

6.1

ClinVar
Risk	Rs193302857(T;T)
Alt	Rs193302857(T;T)
Reference	Rs193302857(-;-)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1412621_1412622insT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020925.1,