rs750323164

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(D;D)	0	common genotype

Make rs750323164(-;AAGT)

Make rs750323164(AAGT;AAGT)

Reference

GRCh38.p7 38.3/149

Chromosome

18

Position

23534463

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs750323164
dbSNP (classic)	rs750323164
ClinGen	rs750323164
ebi	rs750323164
HLI	rs750323164
Exac	rs750323164
Gnomad	rs750323164
Varsome	rs750323164
LitVar	rs750323164
Map	rs750323164
PheGenI	rs750323164
Biobank	rs750323164
1000 genomes	rs750323164
hgdp	rs750323164
ensembl	rs750323164
geneview	rs750323164
scholar	rs750323164
google	rs750323164
pharmgkb	rs750323164
gwascentral	rs750323164
openSNP	rs750323164
23andMe	rs750323164
SNPshot	rs750323164
SNPdbe	rs750323164
MSV3d	rs750323164
GWAS Ctlg	rs750323164

Max Magnitude

0

ClinVar
Risk	rs750323164(AAGT;AAGT)
Alt	rs750323164(AAGT;AAGT)
Reference	Rs750323164(-;-)
Significance	Pathogenic
Disease	Niemann-Pick disease type C1 not provided
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1 not provided
Reversed	0
HGVS	NC_000018.9:g.21114428_21114431dupAAGT
CLNSRC
CLNACC	RCV000297572.1, RCV000485447.1,