rs1057517186

Orientation

minus

Stabilized

minus

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

Make rs1057517186(-;-)

Make rs1057517186(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23568889

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057517186
dbSNP (classic)	rs1057517186
ClinGen	rs1057517186
ebi	rs1057517186
HLI	rs1057517186
Exac	rs1057517186
Gnomad	rs1057517186
Varsome	rs1057517186
LitVar	rs1057517186
Map	rs1057517186
PheGenI	rs1057517186
Biobank	rs1057517186
1000 genomes	rs1057517186
hgdp	rs1057517186
ensembl	rs1057517186
geneview	rs1057517186
scholar	rs1057517186
google	rs1057517186
pharmgkb	rs1057517186
gwascentral	rs1057517186
openSNP	rs1057517186
23andMe	rs1057517186
SNPshot	rs1057517186
SNPdbe	rs1057517186
MSV3d	rs1057517186
GWAS Ctlg	rs1057517186

Max Magnitude

0

ClinVar
Risk	rs1057517186(-;-)
Alt	rs1057517186(-;-)
Reference	Rs1057517186(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.21148853delC
CLNSRC
CLNACC	RCV000410718.1,