rs7958709

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs7958709(G;G)

Make rs7958709(G;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101770477

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs7958709
dbSNP (classic)	rs7958709
ClinGen	rs7958709
ebi	rs7958709
HLI	rs7958709
Exac	rs7958709
Gnomad	rs7958709
Varsome	rs7958709
LitVar	rs7958709
Map	rs7958709
PheGenI	rs7958709
Biobank	rs7958709
1000 genomes	rs7958709
hgdp	rs7958709
ensembl	rs7958709
geneview	rs7958709
scholar	rs7958709
google	rs7958709
pharmgkb	rs7958709
gwascentral	rs7958709
openSNP	rs7958709
23andMe	rs7958709
SNPshot	rs7958709
SNPdbe	rs7958709
MSV3d	rs7958709
GWAS Ctlg	rs7958709

GMAF

0.01102

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

ClinVar
Risk	rs7958709(G;G)
Alt	rs7958709(G;G)
Reference	Rs7958709(T;T)
Significance	Pathogenic
Disease	I cell disease not specified Mucolipidosis not provided
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease not specified Mucolipidosis, Type III Alpha/Beta Mucolipidosis, Type II not provided
Reversed	0
HGVS	NC_000012.11:g.102164255T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032285.1, RCV000250304.1, RCV000344025.1, RCV000392790.1, RCV000437039.1,

[PMID 19617216] Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.