rs193302849

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

16

Position

1362067

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs193302849
dbSNP (classic)	rs193302849
ClinGen	rs193302849
ebi	rs193302849
HLI	rs193302849
Exac	rs193302849
Gnomad	rs193302849
Varsome	rs193302849
LitVar	rs193302849
Map	rs193302849
PheGenI	rs193302849
Biobank	rs193302849
1000 genomes	rs193302849
hgdp	rs193302849
ensembl	rs193302849
geneview	rs193302849
scholar	rs193302849
google	rs193302849
pharmgkb	rs193302849
gwascentral	rs193302849
openSNP	rs193302849
23andMe	rs193302849
SNPshot	rs193302849
SNPdbe	rs193302849
MSV3d	rs193302849
GWAS Ctlg	rs193302849

Max Magnitude

6.1

ClinVar
Risk	Rs193302849(-;-) Rs193302849(CAA;CAA)
Alt	Rs193302849(-;-) Rs193302849(CAA;CAA)
Reference	Rs193302849(ACA;ACA)
Significance	Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1412068_1412070delACA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020918.1,