rs144060383

Orientation

plus

Stabilized

plus

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

Make rs144060383(A;C)

Make rs144060383(C;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

101764563

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs144060383
dbSNP (classic)	rs144060383
ClinGen	rs144060383
ebi	rs144060383
HLI	rs144060383
Exac	rs144060383
Gnomad	rs144060383
Varsome	rs144060383
LitVar	rs144060383
Map	rs144060383
PheGenI	rs144060383
Biobank	rs144060383
1000 genomes	rs144060383
hgdp	rs144060383
ensembl	rs144060383
geneview	rs144060383
scholar	rs144060383
google	rs144060383
pharmgkb	rs144060383
gwascentral	rs144060383
openSNP	rs144060383
23andMe	rs144060383
SNPshot	rs144060383
SNPdbe	rs144060383
MSV3d	rs144060383
GWAS Ctlg	rs144060383

Max Magnitude

0

ClinVar
Risk	rs144060383(C;C)
Alt	rs144060383(C;C)
Reference	Rs144060383(A;A)
Significance	Pathogenic
Disease	Pseudo-Hurler polydystrophy
Variation	info
Gene	GNPTAB
CLNDBN	Pseudo-Hurler polydystrophy
Reversed	0
HGVS	NC_000012.11:g.102158341A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000087104.1,