rs1060499691

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

1361802

Gene

GNPTG

is a	snp
is	mentioned by
dbSNP	rs1060499691
dbSNP (classic)	rs1060499691
ClinGen	rs1060499691
ebi	rs1060499691
HLI	rs1060499691
Exac	rs1060499691
Gnomad	rs1060499691
Varsome	rs1060499691
LitVar	rs1060499691
Map	rs1060499691
PheGenI	rs1060499691
Biobank	rs1060499691
1000 genomes	rs1060499691
hgdp	rs1060499691
ensembl	rs1060499691
geneview	rs1060499691
scholar	rs1060499691
google	rs1060499691
pharmgkb	rs1060499691
gwascentral	rs1060499691
openSNP	rs1060499691
23andMe	rs1060499691
SNPshot	rs1060499691
SNPdbe	rs1060499691
MSV3d	rs1060499691
GWAS Ctlg	rs1060499691

Max Magnitude

6.1

c.233+5G>A

ClinVar
Risk	Rs1060499691(A;A)
Alt	Rs1060499691(A;A)
Reference	Rs1060499691(G;G)
Significance	Probable-Pathogenic
Disease	Mucolipidosis III Gamma
Variation	info
Gene	GNPTG
CLNDBN	Mucolipidosis III Gamma
Reversed	0
HGVS	NC_000016.9:g.1411803G>A
CLNSRC
CLNACC	RCV000449522.1,