rs543206298

Orientation

plus

Stabilized

plus

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

Make rs543206298(A;A)

Make rs543206298(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

18

Position

23539405

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs543206298
dbSNP (classic)	rs543206298
ClinGen	rs543206298
ebi	rs543206298
HLI	rs543206298
Exac	rs543206298
Gnomad	rs543206298
Varsome	rs543206298
LitVar	rs543206298
Map	rs543206298
PheGenI	rs543206298
Biobank	rs543206298
1000 genomes	rs543206298
hgdp	rs543206298
ensembl	rs543206298
geneview	rs543206298
scholar	rs543206298
google	rs543206298
pharmgkb	rs543206298
gwascentral	rs543206298
openSNP	rs543206298
23andMe	rs543206298
SNPshot	rs543206298
SNPdbe	rs543206298
MSV3d	rs543206298
GWAS Ctlg	rs543206298

Max Magnitude

0

ClinVar
Risk	rs543206298(A;A)
Alt	rs543206298(A;A)
Reference	Rs543206298(G;G)
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.21119369G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000158972.3, RCV000254670.2,