rs398123284

Orientation

minus

Stabilized

minus

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

Make rs398123284(-;T)

Make rs398123284(T;T)

Reference

GRCh38 38.1/141

Chromosome

18

Position

23543503

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs398123284
dbSNP (classic)	rs398123284
ClinGen	rs398123284
ebi	rs398123284
HLI	rs398123284
Exac	rs398123284
Gnomad	rs398123284
Varsome	rs398123284
LitVar	rs398123284
Map	rs398123284
PheGenI	rs398123284
Biobank	rs398123284
1000 genomes	rs398123284
hgdp	rs398123284
ensembl	rs398123284
geneview	rs398123284
scholar	rs398123284
google	rs398123284
pharmgkb	rs398123284
gwascentral	rs398123284
openSNP	rs398123284
23andMe	rs398123284
SNPshot	rs398123284
SNPdbe	rs398123284
MSV3d	rs398123284
GWAS Ctlg	rs398123284

Max Magnitude

0

ClinVar
Risk	rs398123284(T;T)
Alt	rs398123284(T;T)
Reference	Rs398123284(-;-)
Significance	Pathogenic
Disease	not provided Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	not provided Niemann-Pick disease type C1
Reversed	1
HGVS	NC_000018.9:g.21123468dupA
CLNSRC	ClinVar
CLNACC	RCV000078472.3, RCV000174669.1,