rs483352888

Orientation

minus

Stabilized

minus

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

Make rs483352888(C;C)

Make rs483352888(C;T)

Reference

GRCh38 38.1/142

Chromosome

18

Position

23544420

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs483352888
dbSNP (classic)	rs483352888
ClinGen	rs483352888
ebi	rs483352888
HLI	rs483352888
Exac	rs483352888
Gnomad	rs483352888
Varsome	rs483352888
LitVar	rs483352888
Map	rs483352888
PheGenI	rs483352888
Biobank	rs483352888
1000 genomes	rs483352888
hgdp	rs483352888
ensembl	rs483352888
geneview	rs483352888
scholar	rs483352888
google	rs483352888
pharmgkb	rs483352888
gwascentral	rs483352888
openSNP	rs483352888
23andMe	rs483352888
SNPshot	rs483352888
SNPdbe	rs483352888
MSV3d	rs483352888
GWAS Ctlg	rs483352888

Max Magnitude

0

ClinVar
Risk	rs483352888(C;C)
Alt	rs483352888(C;C)
Reference	Rs483352888(T;T)
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.21124384A>G
CLNSRC	ClinVar
CLNACC	RCV000119330.1,