rs80358265

Orientation

minus

Stabilized

minus

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

Make rs80358265(-;-)

Make rs80358265(-;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

74484446

Gene

NPC2

is a	snp
is	mentioned by
dbSNP	rs80358265
dbSNP (classic)	rs80358265
ClinGen	rs80358265
ebi	rs80358265
HLI	rs80358265
Exac	rs80358265
Gnomad	rs80358265
Varsome	rs80358265
LitVar	rs80358265
Map	rs80358265
PheGenI	rs80358265
Biobank	rs80358265
1000 genomes	rs80358265
hgdp	rs80358265
ensembl	rs80358265
geneview	rs80358265
scholar	rs80358265
google	rs80358265
pharmgkb	rs80358265
gwascentral	rs80358265
openSNP	rs80358265
23andMe	rs80358265
SNPshot	rs80358265
SNPdbe	rs80358265
MSV3d	rs80358265
GWAS Ctlg	rs80358265

Max Magnitude

0

ClinVar
Risk	rs80358265(-;-)
Alt	rs80358265(-;-)
Reference	Rs80358265(A;A)
Significance	Pathogenic
Disease	Niemann-Pick disease type C2 Niemann-Pick disease
Variation	info
Gene	NPC2
CLNDBN	Niemann-Pick disease type C2 Niemann-Pick disease, type C
Reversed	1
HGVS	NC_000014.8:g.74951149delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020647.1, RCV000280906.1,