rs369098773

Orientation

plus

Stabilized

plus

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

Make rs369098773(C;C)

Make rs369098773(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23534471

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs369098773
dbSNP (classic)	rs369098773
ClinGen	rs369098773
ebi	rs369098773
HLI	rs369098773
Exac	rs369098773
Gnomad	rs369098773
Varsome	rs369098773
LitVar	rs369098773
Map	rs369098773
PheGenI	rs369098773
Biobank	rs369098773
1000 genomes	rs369098773
hgdp	rs369098773
ensembl	rs369098773
geneview	rs369098773
scholar	rs369098773
google	rs369098773
pharmgkb	rs369098773
gwascentral	rs369098773
openSNP	rs369098773
23andMe	rs369098773
SNPshot	rs369098773
SNPdbe	rs369098773
MSV3d	rs369098773
GWAS Ctlg	rs369098773

Max Magnitude

0

ClinVar
Risk	rs369098773(C;C)
Alt	rs369098773(C;C)
Reference	Rs369098773(T;T)
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.21114435T>C
CLNSRC
CLNACC	RCV000412462.1,