rs80358267

Orientation

minus

Stabilized

minus

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

Make rs80358267(-;-)

Make rs80358267(-;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

74493248

Gene	ISCA2, NPC2

is a	snp
is	mentioned by
dbSNP	rs80358267
dbSNP (classic)	rs80358267
ClinGen	rs80358267
ebi	rs80358267
HLI	rs80358267
Exac	rs80358267
Gnomad	rs80358267
Varsome	rs80358267
LitVar	rs80358267
Map	rs80358267
PheGenI	rs80358267
Biobank	rs80358267
1000 genomes	rs80358267
hgdp	rs80358267
ensembl	rs80358267
geneview	rs80358267
scholar	rs80358267
google	rs80358267
pharmgkb	rs80358267
gwascentral	rs80358267
openSNP	rs80358267
23andMe	rs80358267
SNPshot	rs80358267
SNPdbe	rs80358267
MSV3d	rs80358267
GWAS Ctlg	rs80358267

Max Magnitude

0

ClinVar
Risk	rs80358267(-;-)
Alt	rs80358267(-;-)
Reference	Rs80358267(G;G)
Significance	Pathogenic
Disease	Niemann-Pick disease type C2
Variation	info
Gene	ISCA2 NPC2
CLNDBN	Niemann-Pick disease type C2
Reversed	1
HGVS	NC_000014.8:g.74959951delC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020645.1,