rs200444084

Orientation

plus

Stabilized

plus

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

Make rs200444084(C;T)

Make rs200444084(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

18

Position

23534480

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs200444084
dbSNP (classic)	rs200444084
ClinGen	rs200444084
ebi	rs200444084
HLI	rs200444084
Exac	rs200444084
Gnomad	rs200444084
Varsome	rs200444084
LitVar	rs200444084
Map	rs200444084
PheGenI	rs200444084
Biobank	rs200444084
1000 genomes	rs200444084
hgdp	rs200444084
ensembl	rs200444084
geneview	rs200444084
scholar	rs200444084
google	rs200444084
pharmgkb	rs200444084
gwascentral	rs200444084
openSNP	rs200444084
23andMe	rs200444084
SNPshot	rs200444084
SNPdbe	rs200444084
MSV3d	rs200444084
GWAS Ctlg	rs200444084

Max Magnitude

0

ClinVar
Risk	rs200444084(T;T)
Alt	rs200444084(T;T)
Reference	Rs200444084(C;C)
Significance	Pathogenic
Disease	Niemann-Pick disease type C1 not provided
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1 not provided
Reversed	0
HGVS	NC_000018.9:g.21114444C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169602.2, RCV000479463.1,