rs1057517074

Orientation

minus

Stabilized

minus

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

Make rs1057517074(-;-)

Make rs1057517074(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23560260

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057517074
dbSNP (classic)	rs1057517074
ClinGen	rs1057517074
ebi	rs1057517074
HLI	rs1057517074
Exac	rs1057517074
Gnomad	rs1057517074
Varsome	rs1057517074
LitVar	rs1057517074
Map	rs1057517074
PheGenI	rs1057517074
Biobank	rs1057517074
1000 genomes	rs1057517074
hgdp	rs1057517074
ensembl	rs1057517074
geneview	rs1057517074
scholar	rs1057517074
google	rs1057517074
pharmgkb	rs1057517074
gwascentral	rs1057517074
openSNP	rs1057517074
23andMe	rs1057517074
SNPshot	rs1057517074
SNPdbe	rs1057517074
MSV3d	rs1057517074
GWAS Ctlg	rs1057517074

Max Magnitude

0

ClinVar
Risk	rs1057517074(-;-)
Alt	rs1057517074(-;-)
Reference	Rs1057517074(T;T)
Significance	Pathogenic
Disease	Niemann-Pick disease type C1
Variation	info
Gene	NPC1
CLNDBN	Niemann-Pick disease type C1
Reversed	1
HGVS	NC_000018.9:g.21140224delA
CLNSRC
CLNACC	RCV000409772.1,