rs1057516813

Orientation

minus

Stabilized

minus

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

Make rs1057516813(C;C)

Make rs1057516813(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23554985

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057516813
dbSNP (classic)	rs1057516813
ClinGen	rs1057516813
ebi	rs1057516813
HLI	rs1057516813
Exac	rs1057516813
Gnomad	rs1057516813
Varsome	rs1057516813
LitVar	rs1057516813
Map	rs1057516813
PheGenI	rs1057516813
Biobank	rs1057516813
1000 genomes	rs1057516813
hgdp	rs1057516813
ensembl	rs1057516813
geneview	rs1057516813
scholar	rs1057516813
google	rs1057516813
pharmgkb	rs1057516813
gwascentral	rs1057516813
openSNP	rs1057516813
23andMe	rs1057516813
SNPshot	rs1057516813
SNPdbe	rs1057516813
MSV3d	rs1057516813
GWAS Ctlg	rs1057516813

Max Magnitude

0

ClinVar
Risk	rs1057516813(C;C)
Alt	rs1057516813(C;C)
Reference	Rs1057516813(G;G)
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.21134949C>G
CLNSRC
CLNACC	RCV000409528.1,