rs483352890

Orientation

minus

Stabilized

minus

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

Make rs483352890(C;C)

Make rs483352890(C;G)

Reference

GRCh38 38.1/142

Chromosome

18

Position

23543523

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs483352890
dbSNP (classic)	rs483352890
ClinGen	rs483352890
ebi	rs483352890
HLI	rs483352890
Exac	rs483352890
Gnomad	rs483352890
Varsome	rs483352890
LitVar	rs483352890
Map	rs483352890
PheGenI	rs483352890
Biobank	rs483352890
1000 genomes	rs483352890
hgdp	rs483352890
ensembl	rs483352890
geneview	rs483352890
scholar	rs483352890
google	rs483352890
pharmgkb	rs483352890
gwascentral	rs483352890
openSNP	rs483352890
23andMe	rs483352890
SNPshot	rs483352890
SNPdbe	rs483352890
MSV3d	rs483352890
GWAS Ctlg	rs483352890

Max Magnitude

0

ClinVar
Risk	rs483352890(C;C)
Alt	rs483352890(C;C)
Reference	Rs483352890(G;G)
Significance	Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	1
HGVS	NC_000018.9:g.21123487C>G
CLNSRC	ClinVar
CLNACC	RCV000119332.1,