rs777286835

Orientation

plus

Stabilized

plus

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

Make rs777286835(A;A)

Make rs777286835(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

18

Position

23543487

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs777286835
dbSNP (classic)	rs777286835
ClinGen	rs777286835
ebi	rs777286835
HLI	rs777286835
Exac	rs777286835
Gnomad	rs777286835
Varsome	rs777286835
LitVar	rs777286835
Map	rs777286835
PheGenI	rs777286835
Biobank	rs777286835
1000 genomes	rs777286835
hgdp	rs777286835
ensembl	rs777286835
geneview	rs777286835
scholar	rs777286835
google	rs777286835
pharmgkb	rs777286835
gwascentral	rs777286835
openSNP	rs777286835
23andMe	rs777286835
SNPshot	rs777286835
SNPdbe	rs777286835
MSV3d	rs777286835
GWAS Ctlg	rs777286835

Max Magnitude

0

ClinVar
Risk	rs777286835(A;A) rs777286835(T;T)
Alt	rs777286835(A;A) rs777286835(T;T)
Reference	Rs777286835(G;G)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	0
HGVS	NC_000018.9:g.21123451G>T
CLNSRC
CLNACC	RCV000197375.1,