rs149390820

Orientation

plus

Stabilized

plus

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

Make rs149390820(C;T)

Make rs149390820(T;T)

Reference

GRCh38 38.1/142

Chromosome

12

Position

101765143

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs149390820
dbSNP (classic)	rs149390820
ClinGen	rs149390820
ebi	rs149390820
HLI	rs149390820
Exac	rs149390820
Gnomad	rs149390820
Varsome	rs149390820
LitVar	rs149390820
Map	rs149390820
PheGenI	rs149390820
Biobank	rs149390820
1000 genomes	rs149390820
hgdp	rs149390820
ensembl	rs149390820
geneview	rs149390820
scholar	rs149390820
google	rs149390820
pharmgkb	rs149390820
gwascentral	rs149390820
openSNP	rs149390820
23andMe	rs149390820
SNPshot	rs149390820
SNPdbe	rs149390820
MSV3d	rs149390820
GWAS Ctlg	rs149390820

Max Magnitude

0

ClinVar
Risk	rs149390820(T;T)
Alt	rs149390820(T;T)
Reference	Rs149390820(C;C)
Significance	Pathogenic
Disease	Pseudo-Hurler polydystrophy
Variation	info
Gene	GNPTAB
CLNDBN	Pseudo-Hurler polydystrophy
Reversed	0
HGVS	NC_000012.11:g.102158921C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087103.1,