rs1057517455

Orientation

minus

Stabilized

minus

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

Make rs1057517455(-;-)

Make rs1057517455(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

23548052

Gene

NPC1

is a	snp
is	mentioned by
dbSNP	rs1057517455
dbSNP (classic)	rs1057517455
ClinGen	rs1057517455
ebi	rs1057517455
HLI	rs1057517455
Exac	rs1057517455
Gnomad	rs1057517455
Varsome	rs1057517455
LitVar	rs1057517455
Map	rs1057517455
PheGenI	rs1057517455
Biobank	rs1057517455
1000 genomes	rs1057517455
hgdp	rs1057517455
ensembl	rs1057517455
geneview	rs1057517455
scholar	rs1057517455
google	rs1057517455
pharmgkb	rs1057517455
gwascentral	rs1057517455
openSNP	rs1057517455
23andMe	rs1057517455
SNPshot	rs1057517455
SNPdbe	rs1057517455
MSV3d	rs1057517455
GWAS Ctlg	rs1057517455

Max Magnitude

0

ClinVar
Risk	rs1057517455(-;-)
Alt	rs1057517455(-;-)
Reference	Rs1057517455(T;T)
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.21128016delA
CLNSRC
CLNACC	RCV000412209.1,