rs1057517077

Orientation

minus

Stabilized

minus

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

Make rs1057517077(C;T)

Make rs1057517077(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23554972

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057517077
dbSNP (classic)	rs1057517077
ClinGen	rs1057517077
ebi	rs1057517077
HLI	rs1057517077
Exac	rs1057517077
Gnomad	rs1057517077
Varsome	rs1057517077
LitVar	rs1057517077
Map	rs1057517077
PheGenI	rs1057517077
Biobank	rs1057517077
1000 genomes	rs1057517077
hgdp	rs1057517077
ensembl	rs1057517077
geneview	rs1057517077
scholar	rs1057517077
google	rs1057517077
pharmgkb	rs1057517077
gwascentral	rs1057517077
openSNP	rs1057517077
23andMe	rs1057517077
SNPshot	rs1057517077
SNPdbe	rs1057517077
MSV3d	rs1057517077
GWAS Ctlg	rs1057517077

Max Magnitude

0

ClinVar
Risk	rs1057517077(T;T)
Alt	rs1057517077(T;T)
Reference	Rs1057517077(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.21134936G>A
CLNSRC
CLNACC	RCV000411431.1,