rs1057516260

Orientation

minus

Stabilized

minus

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

Make rs1057516260(-;-)

Make rs1057516260(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23561362

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057516260
dbSNP (classic)	rs1057516260
ClinGen	rs1057516260
ebi	rs1057516260
HLI	rs1057516260
Exac	rs1057516260
Gnomad	rs1057516260
Varsome	rs1057516260
LitVar	rs1057516260
Map	rs1057516260
PheGenI	rs1057516260
Biobank	rs1057516260
1000 genomes	rs1057516260
hgdp	rs1057516260
ensembl	rs1057516260
geneview	rs1057516260
scholar	rs1057516260
google	rs1057516260
pharmgkb	rs1057516260
gwascentral	rs1057516260
openSNP	rs1057516260
23andMe	rs1057516260
SNPshot	rs1057516260
SNPdbe	rs1057516260
MSV3d	rs1057516260
GWAS Ctlg	rs1057516260

Max Magnitude

0

ClinVar
Risk	rs1057516260(-;-)
Alt	rs1057516260(-;-)
Reference	Rs1057516260(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.21141326delG
CLNSRC
CLNACC	RCV000411046.1,