rs876661319

Orientation

minus

Stabilized

minus

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

Make rs876661319(A;G)

Make rs876661319(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

18

Position

23536791

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs876661319
dbSNP (classic)	rs876661319
ClinGen	rs876661319
ebi	rs876661319
HLI	rs876661319
Exac	rs876661319
Gnomad	rs876661319
Varsome	rs876661319
LitVar	rs876661319
Map	rs876661319
PheGenI	rs876661319
Biobank	rs876661319
1000 genomes	rs876661319
hgdp	rs876661319
ensembl	rs876661319
geneview	rs876661319
scholar	rs876661319
google	rs876661319
pharmgkb	rs876661319
gwascentral	rs876661319
openSNP	rs876661319
23andMe	rs876661319
SNPshot	rs876661319
SNPdbe	rs876661319
MSV3d	rs876661319
GWAS Ctlg	rs876661319

Max Magnitude

0

ClinVar
Risk	rs876661319(G;G)
Alt	rs876661319(G;G)
Reference	Rs876661319(A;A)
Significance	Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	1
HGVS	NC_000018.9:g.21116755T>C
CLNSRC
CLNACC	RCV000223886.1,