rs786200878

Orientation

minus

Stabilized

minus

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

Make rs786200878(-;-)

Make rs786200878(-;T)

Reference

GRCh38.p2 38.2/146

Chromosome

18

Position

23533447

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs786200878
dbSNP (classic)	rs786200878
ClinGen	rs786200878
ebi	rs786200878
HLI	rs786200878
Exac	rs786200878
Gnomad	rs786200878
Varsome	rs786200878
LitVar	rs786200878
Map	rs786200878
PheGenI	rs786200878
Biobank	rs786200878
1000 genomes	rs786200878
hgdp	rs786200878
ensembl	rs786200878
geneview	rs786200878
scholar	rs786200878
google	rs786200878
pharmgkb	rs786200878
gwascentral	rs786200878
openSNP	rs786200878
23andMe	rs786200878
SNPshot	rs786200878
SNPdbe	rs786200878
MSV3d	rs786200878
GWAS Ctlg	rs786200878

Max Magnitude

0

ClinVar
Risk	rs786200878(-;-)
Alt	rs786200878(-;-)
Reference	Rs786200878(T;T)
Significance	Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	C18orf8 NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	1
HGVS	NC_000018.9:g.21113411delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003111.3,