rs1057516462

Orientation

minus

Stabilized

minus

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

Make rs1057516462(-;-)

Make rs1057516462(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23568891

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057516462
dbSNP (classic)	rs1057516462
ClinGen	rs1057516462
ebi	rs1057516462
HLI	rs1057516462
Exac	rs1057516462
Gnomad	rs1057516462
Varsome	rs1057516462
LitVar	rs1057516462
Map	rs1057516462
PheGenI	rs1057516462
Biobank	rs1057516462
1000 genomes	rs1057516462
hgdp	rs1057516462
ensembl	rs1057516462
geneview	rs1057516462
scholar	rs1057516462
google	rs1057516462
pharmgkb	rs1057516462
gwascentral	rs1057516462
openSNP	rs1057516462
23andMe	rs1057516462
SNPshot	rs1057516462
SNPdbe	rs1057516462
MSV3d	rs1057516462
GWAS Ctlg	rs1057516462

Max Magnitude

0

ClinVar
Risk	rs1057516462(-;-)
Alt	rs1057516462(-;-)
Reference	Rs1057516462(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.21148855delG
CLNSRC
CLNACC	RCV000410028.1,