rs1057516749

Orientation

minus

Stabilized

minus

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

Make rs1057516749(C;T)

Make rs1057516749(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23568853

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057516749
dbSNP (classic)	rs1057516749
ClinGen	rs1057516749
ebi	rs1057516749
HLI	rs1057516749
Exac	rs1057516749
Gnomad	rs1057516749
Varsome	rs1057516749
LitVar	rs1057516749
Map	rs1057516749
PheGenI	rs1057516749
Biobank	rs1057516749
1000 genomes	rs1057516749
hgdp	rs1057516749
ensembl	rs1057516749
geneview	rs1057516749
scholar	rs1057516749
google	rs1057516749
pharmgkb	rs1057516749
gwascentral	rs1057516749
openSNP	rs1057516749
23andMe	rs1057516749
SNPshot	rs1057516749
SNPdbe	rs1057516749
MSV3d	rs1057516749
GWAS Ctlg	rs1057516749

Max Magnitude

0

ClinVar
Risk	rs1057516749(T;T)
Alt	rs1057516749(T;T)
Reference	Rs1057516749(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.21148817G>A
CLNSRC
CLNACC	RCV000411904.1,