rs150334966

Orientation

plus

Stabilized

plus

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

Make rs150334966(A;A)

Make rs150334966(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23538572

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs150334966
dbSNP (classic)	rs150334966
ClinGen	rs150334966
ebi	rs150334966
HLI	rs150334966
Exac	rs150334966
Gnomad	rs150334966
Varsome	rs150334966
LitVar	rs150334966
Map	rs150334966
PheGenI	rs150334966
Biobank	rs150334966
1000 genomes	rs150334966
hgdp	rs150334966
ensembl	rs150334966
geneview	rs150334966
scholar	rs150334966
google	rs150334966
pharmgkb	rs150334966
gwascentral	rs150334966
openSNP	rs150334966
23andMe	rs150334966
SNPshot	rs150334966
SNPdbe	rs150334966
MSV3d	rs150334966
GWAS Ctlg	rs150334966

Max Magnitude

0

ClinVar
Risk	rs150334966(A;A)
Alt	rs150334966(A;A)
Reference	Rs150334966(G;G)
Significance	Pathogenic
Disease	Niemann-Pick disease not provided
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease, type C not provided
Reversed	0
HGVS	NC_000018.9:g.21118536G>A
CLNSRC
CLNACC	RCV000268057.1, RCV000414264.1,