rs786204455

Orientation

minus

Stabilized

minus

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

Make rs786204455(C;T)

Make rs786204455(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

18

Position

23536743

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs786204455
dbSNP (classic)	rs786204455
ClinGen	rs786204455
ebi	rs786204455
HLI	rs786204455
Exac	rs786204455
Gnomad	rs786204455
Varsome	rs786204455
LitVar	rs786204455
Map	rs786204455
PheGenI	rs786204455
Biobank	rs786204455
1000 genomes	rs786204455
hgdp	rs786204455
ensembl	rs786204455
geneview	rs786204455
scholar	rs786204455
google	rs786204455
pharmgkb	rs786204455
gwascentral	rs786204455
openSNP	rs786204455
23andMe	rs786204455
SNPshot	rs786204455
SNPdbe	rs786204455
MSV3d	rs786204455
GWAS Ctlg	rs786204455

Max Magnitude

0

ClinVar
Risk	rs786204455(T;T)
Alt	rs786204455(T;T)
Reference	Rs786204455(C;C)
Significance	Other
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	1
HGVS	NC_000018.9:g.21116707G>A
CLNSRC
CLNACC	RCV000169092.1,