rs369368181

Orientation

plus

Stabilized

plus

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

Make rs369368181(A;A)

Make rs369368181(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23551653

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs369368181
dbSNP (classic)	rs369368181
ClinGen	rs369368181
ebi	rs369368181
HLI	rs369368181
Exac	rs369368181
Gnomad	rs369368181
Varsome	rs369368181
LitVar	rs369368181
Map	rs369368181
PheGenI	rs369368181
Biobank	rs369368181
1000 genomes	rs369368181
hgdp	rs369368181
ensembl	rs369368181
geneview	rs369368181
scholar	rs369368181
google	rs369368181
pharmgkb	rs369368181
gwascentral	rs369368181
openSNP	rs369368181
23andMe	rs369368181
SNPshot	rs369368181
SNPdbe	rs369368181
MSV3d	rs369368181
GWAS Ctlg	rs369368181

Max Magnitude

0

ClinVar
Risk	rs369368181(A;A)
Alt	rs369368181(A;A)
Reference	Rs369368181(G;G)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	0
HGVS	NC_000018.9:g.21131617G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000158970.4,