rs1057517005

Orientation

minus

Stabilized

minus

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

Make rs1057517005(A;G)

Make rs1057517005(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23586343

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057517005
dbSNP (classic)	rs1057517005
ClinGen	rs1057517005
ebi	rs1057517005
HLI	rs1057517005
Exac	rs1057517005
Gnomad	rs1057517005
Varsome	rs1057517005
LitVar	rs1057517005
Map	rs1057517005
PheGenI	rs1057517005
Biobank	rs1057517005
1000 genomes	rs1057517005
hgdp	rs1057517005
ensembl	rs1057517005
geneview	rs1057517005
scholar	rs1057517005
google	rs1057517005
pharmgkb	rs1057517005
gwascentral	rs1057517005
openSNP	rs1057517005
23andMe	rs1057517005
SNPshot	rs1057517005
SNPdbe	rs1057517005
MSV3d	rs1057517005
GWAS Ctlg	rs1057517005

Max Magnitude

0

ClinVar
Risk	rs1057517005(G;G)
Alt	rs1057517005(G;G)
Reference	Rs1057517005(A;A)
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.21166307T>C
CLNSRC
CLNACC	RCV000412029.1,