rs1057516603

Orientation

minus

Stabilized

minus

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

Make rs1057516603(-;-)

Make rs1057516603(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23539831

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057516603
dbSNP (classic)	rs1057516603
ClinGen	rs1057516603
ebi	rs1057516603
HLI	rs1057516603
Exac	rs1057516603
Gnomad	rs1057516603
Varsome	rs1057516603
LitVar	rs1057516603
Map	rs1057516603
PheGenI	rs1057516603
Biobank	rs1057516603
1000 genomes	rs1057516603
hgdp	rs1057516603
ensembl	rs1057516603
geneview	rs1057516603
scholar	rs1057516603
google	rs1057516603
pharmgkb	rs1057516603
gwascentral	rs1057516603
openSNP	rs1057516603
23andMe	rs1057516603
SNPshot	rs1057516603
SNPdbe	rs1057516603
MSV3d	rs1057516603
GWAS Ctlg	rs1057516603

Max Magnitude

0

ClinVar
Risk	rs1057516603(-;-)
Alt	rs1057516603(-;-)
Reference	Rs1057516603(C;C)
Significance	Probable-Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	1
HGVS	NC_000018.9:g.21119795delG
CLNSRC
CLNACC	RCV000411615.1,