rs80358263

Orientation

minus

Stabilized

minus

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

Make rs80358263(A;A)

Make rs80358263(A;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

74486378

Gene

NPC2

is a	snp
is	mentioned by
dbSNP	rs80358263
dbSNP (classic)	rs80358263
ClinGen	rs80358263
ebi	rs80358263
HLI	rs80358263
Exac	rs80358263
Gnomad	rs80358263
Varsome	rs80358263
LitVar	rs80358263
Map	rs80358263
PheGenI	rs80358263
Biobank	rs80358263
1000 genomes	rs80358263
hgdp	rs80358263
ensembl	rs80358263
geneview	rs80358263
scholar	rs80358263
google	rs80358263
pharmgkb	rs80358263
gwascentral	rs80358263
openSNP	rs80358263
23andMe	rs80358263
SNPshot	rs80358263
SNPdbe	rs80358263
MSV3d	rs80358263
GWAS Ctlg	rs80358263

Max Magnitude

0

ClinVar
Risk	rs80358263(A;A)
Alt	rs80358263(A;A)
Reference	Rs80358263(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.74953081G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020644.2,