rs483352893

Orientation

minus

Stabilized

minus

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

Make rs483352893(C;C)

Make rs483352893(C;G)

Reference

GRCh38 38.1/142

Chromosome

14

Position

74493272

Gene	ISCA2, NPC2

is a	snp
is	mentioned by
dbSNP	rs483352893
dbSNP (classic)	rs483352893
ClinGen	rs483352893
ebi	rs483352893
HLI	rs483352893
Exac	rs483352893
Gnomad	rs483352893
Varsome	rs483352893
LitVar	rs483352893
Map	rs483352893
PheGenI	rs483352893
Biobank	rs483352893
1000 genomes	rs483352893
hgdp	rs483352893
ensembl	rs483352893
geneview	rs483352893
scholar	rs483352893
google	rs483352893
pharmgkb	rs483352893
gwascentral	rs483352893
openSNP	rs483352893
23andMe	rs483352893
SNPshot	rs483352893
SNPdbe	rs483352893
MSV3d	rs483352893
GWAS Ctlg	rs483352893

Max Magnitude

0

ClinVar
Risk	rs483352893(C;C) rs483352893(T;T)
Alt	rs483352893(C;C) rs483352893(T;T)
Reference	Rs483352893(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.74959975C>G
CLNSRC	ClinVar
CLNACC	RCV000119339.1,