rs281864960

Orientation

minus

Stabilized

minus

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

Make rs281864960(A;C)

Make rs281864960(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101786009

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281864960
dbSNP (classic)	rs281864960
ClinGen	rs281864960
ebi	rs281864960
HLI	rs281864960
Exac	rs281864960
Gnomad	rs281864960
Varsome	rs281864960
LitVar	rs281864960
Map	rs281864960
PheGenI	rs281864960
Biobank	rs281864960
1000 genomes	rs281864960
hgdp	rs281864960
ensembl	rs281864960
geneview	rs281864960
scholar	rs281864960
google	rs281864960
pharmgkb	rs281864960
gwascentral	rs281864960
openSNP	rs281864960
23andMe	rs281864960
SNPshot	rs281864960
SNPdbe	rs281864960
MSV3d	rs281864960
GWAS Ctlg	rs281864960

Max Magnitude

0

ClinVar
Risk	rs281864960(C;C) rs281864960(G;G)
Alt	rs281864960(C;C) rs281864960(G;G)
Reference	Rs281864960(A;A)
Significance	Pathogenic
Disease	Pseudo-Hurler polydystrophy
Variation	info
Gene	GNPTAB
CLNDBN	Pseudo-Hurler polydystrophy
Reversed	1
HGVS	NC_000012.11:g.102179787T>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032350.1,

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