rs138390866

Orientation

plus

Stabilized

plus

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

Make rs138390866(A;A)

Make rs138390866(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101761615

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs138390866
dbSNP (classic)	rs138390866
ClinGen	rs138390866
ebi	rs138390866
HLI	rs138390866
Exac	rs138390866
Gnomad	rs138390866
Varsome	rs138390866
LitVar	rs138390866
Map	rs138390866
PheGenI	rs138390866
Biobank	rs138390866
1000 genomes	rs138390866
hgdp	rs138390866
ensembl	rs138390866
geneview	rs138390866
scholar	rs138390866
google	rs138390866
pharmgkb	rs138390866
gwascentral	rs138390866
openSNP	rs138390866
23andMe	rs138390866
SNPshot	rs138390866
SNPdbe	rs138390866
MSV3d	rs138390866
GWAS Ctlg	rs138390866

Max Magnitude

0

ClinVar
Risk	rs138390866(A;A)
Alt	rs138390866(A;A)
Reference	Rs138390866(G;G)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	0
HGVS	NC_000012.11:g.102155393G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032360.1,

[PMID 19938078] Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.