rs80358262

Orientation

minus

Stabilized

minus

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

Make rs80358262(C;T)

Make rs80358262(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

74486386

Gene

NPC2

is a	snp
is	mentioned by
dbSNP	rs80358262
dbSNP (classic)	rs80358262
ClinGen	rs80358262
ebi	rs80358262
HLI	rs80358262
Exac	rs80358262
Gnomad	rs80358262
Varsome	rs80358262
LitVar	rs80358262
Map	rs80358262
PheGenI	rs80358262
Biobank	rs80358262
1000 genomes	rs80358262
hgdp	rs80358262
ensembl	rs80358262
geneview	rs80358262
scholar	rs80358262
google	rs80358262
pharmgkb	rs80358262
gwascentral	rs80358262
openSNP	rs80358262
23andMe	rs80358262
SNPshot	rs80358262
SNPdbe	rs80358262
MSV3d	rs80358262
GWAS Ctlg	rs80358262

Max Magnitude

0

ClinVar
Risk	rs80358262(T;T)
Alt	rs80358262(T;T)
Reference	Rs80358262(C;C)
Significance	Pathogenic
Disease	Niemann-Pick disease type C2
Variation	info
Gene	NPC2
CLNDBN	Niemann-Pick disease type C2
Reversed	1
HGVS	NC_000014.8:g.74953089G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020643.1,