rs1060499690

Orientation

plus

Stabilized

plus

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

Chromosome

16

Position

1362044

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs1060499690
dbSNP (classic)	rs1060499690
ClinGen	rs1060499690
ebi	rs1060499690
HLI	rs1060499690
Exac	rs1060499690
Gnomad	rs1060499690
Varsome	rs1060499690
LitVar	rs1060499690
Map	rs1060499690
PheGenI	rs1060499690
Biobank	rs1060499690
1000 genomes	rs1060499690
hgdp	rs1060499690
ensembl	rs1060499690
geneview	rs1060499690
scholar	rs1060499690
google	rs1060499690
pharmgkb	rs1060499690
gwascentral	rs1060499690
openSNP	rs1060499690
23andMe	rs1060499690
SNPshot	rs1060499690
SNPdbe	rs1060499690
MSV3d	rs1060499690
GWAS Ctlg	rs1060499690

Max Magnitude

6.1

c.324G>A (p.Trp108Ter)

ClinVar
Risk	Rs1060499690(A;A)
Alt	Rs1060499690(A;A)
Reference	Rs1060499690(G;G)
Significance	Probable-Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1412045G>A
CLNSRC
CLNACC	RCV000449610.1,